CXB1_HUMAN
ID CXB1_HUMAN Reviewed; 283 AA.
AC P08034; B2R8R2; D3DVV2; Q5U0S4;
DT 01-AUG-1988, integrated into UniProtKB/Swiss-Prot.
DT 01-AUG-1988, sequence version 1.
DT 03-AUG-2022, entry version 220.
DE RecName: Full=Gap junction beta-1 protein;
DE AltName: Full=Connexin-32;
DE Short=Cx32;
DE AltName: Full=GAP junction 28 kDa liver protein;
GN Name=GJB1; Synonyms=CX32;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Liver;
RX PubMed=2875078; DOI=10.1083/jcb.103.3.767;
RA Kumar N.M., Gilula N.B.;
RT "Cloning and characterization of human and rat liver cDNAs coding for a gap
RT junction protein.";
RL J. Cell Biol. 103:767-776(1986).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Subthalamic nucleus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Liver, Placenta, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-17.
RA Neuhaus I.M., Bone L., Wang S., Ionasescu V., Werner R.;
RL Submitted (SEP-1995) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP TOPOLOGY.
RX PubMed=2460334; DOI=10.1002/j.1460-2075.1988.tb03159.x;
RA Milks L.C., Kumar N.M., Houghten R., Unwin N., Gilula N.B.;
RT "Topology of the 32-kd liver gap junction protein determined by site-
RT directed antibody localizations.";
RL EMBO J. 7:2967-2975(1988).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-258; SER-266 AND SER-277, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [9]
RP 3D-STRUCTURE MODELING OF 19-209, AND STRUCTURE BY ELECTRON MICROSCOPY (20
RP ANGSTROMS).
RX PubMed=15383278; DOI=10.1016/j.molcel.2004.08.016;
RA Fleishman S.J., Unger V.M., Yeager M., Ben-Tal N.;
RT "A Calpha model for the transmembrane alpha helices of gap junction
RT intercellular channels.";
RL Mol. Cell 15:879-888(2004).
RN [10]
RP REVIEW ON CMTX1 VARIANTS.
RX PubMed=9888385;
RX DOI=10.1002/(sici)1098-1004(1999)13:1<11::aid-humu2>3.0.co;2-a;
RA Nelis E., Haites N., van Broeckhoven C.;
RT "Mutations in the peripheral myelin genes and associated genes in inherited
RT peripheral neuropathies.";
RL Hum. Mutat. 13:11-28(1999).
RN [11]
RP VARIANTS CMTX1 SER-12; MET-139; TRP-142; ARG-156; SER-172 AND LYS-186.
RX PubMed=8266101; DOI=10.1126/science.8266101;
RA Bergoffen J., Schere S.S., Wang S., Oronzi Scott M., Bone L.J., Paul D.L.,
RA Chen K., Lensch M.W., Chance P.F., Fischbeck K.H.;
RT "Connexin mutations in X-linked Charcot-Marie-Tooth disease.";
RL Science 262:2039-2042(1993).
RN [12]
RP VARIANTS CMTX1 MET-35; ALA-158; THR-182 AND 111-HIS--HIS-116 DEL.
RA Cherryson A.K., Yeung L., Kennerson M.L., Nicholson G.A.;
RT "Mutational studies in X-linked Charcot-Marie-Tooth disease (CMTX).";
RL Am. J. Hum. Genet. 55:A216-A216(1994).
RN [13]
RP VARIANTS CMTX1 GLN-15; PHE-60; ILE-63; LEU-143 DEL; LYS-208 AND TRP-215.
RX PubMed=8162049; DOI=10.1093/hmg/3.1.29;
RA Fairweather N., Bell C., Cochrane S., Chelly J., Wang S.,
RA Mostacciuolo M.L., Monaco A.P., Haites N.E.;
RT "Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth
RT disease (CMTX1).";
RL Hum. Mol. Genet. 3:29-34(1994).
RN [14]
RP VARIANTS CMTX1 GLY-102 AND TRP-142.
RX PubMed=8004109; DOI=10.1093/hmg/3.2.355;
RA Ionasescu V., Searby C., Ionasescu R.;
RT "Point mutations of the connexin32 (GJB1) gene in X-linked dominant
RT Charcot-Marie-Tooth neuropathy.";
RL Hum. Mol. Genet. 3:355-358(1994).
RN [15]
RP VARIANT CMTX1 MET-38.
RX PubMed=7833935; DOI=10.1093/hmg/3.9.1699;
RA Orth U., Fairweather N., Exler M.-C., Schwinger E., Gal A.;
RT "X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine
RT substitution of connexin32.";
RL Hum. Mol. Genet. 3:1699-1700(1994).
RN [16]
RP VARIANTS CMTX1 LEU-13; ASN-30; CYS-65; MET-95; ARG-133 AND ARG-156.
RX PubMed=7477983; DOI=10.1212/wnl.45.10.1863;
RA Bone L.J., Dahl N., Lensch M.W., Chance P.F., Kelly T., le Guern E.,
RA Magi S., Parry G., Shapiro H., Wang S., Fischbeck K.H.;
RT "New connexin32 mutations associated with X-linked Charcot-Marie-Tooth
RT disease.";
RL Neurology 45:1863-1866(1995).
RN [17]
RP VARIANTS CMTX1 SER-3; GLN-22; SER-77; ARG-80; GLY-102; TRP-142 AND TRP-164.
RX PubMed=8737658;
RX DOI=10.1002/(sici)1096-8628(19960614)63:3<486::aid-ajmg14>3.0.co;2-i;
RA Ionasescu V., Ionasescu R., Searby C.;
RT "Correlation between connexin 32 gene mutations and clinical phenotype in
RT X-linked dominant Charcot-Marie-Tooth neuropathy.";
RL Am. J. Med. Genet. 63:486-491(1996).
RN [18]
RP VARIANTS CMTX1 GLY-22; PRO-22 AND TRP-215.
RX PubMed=8698335; DOI=10.1007/s004390050183;
RA Ressot C., Latour P., Blanquet-Grossard F., Sturtz F., Duthel S.,
RA Battin J., Corbillon E., Ollagnon E., Serville F., Vandenberghe A.,
RA Dautigny A., Pham-Dinh D.;
RT "X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in
RT the connexin32 gene.";
RL Hum. Genet. 98:172-175(1996).
RN [19]
RP VARIANTS CMTX1 THR-34; GLN-75 AND TRP-107.
RX PubMed=8829637;
RX DOI=10.1002/(sici)1098-1004(1996)7:2<167::aid-humu14>3.0.co;2-0;
RA Tan C.C., Ainsworth P.J., Hahn A.F., Macleod P.M.;
RT "Novel mutations in the connexin 32 gene associated with X-linked Charcot-
RT Marie tooth disease.";
RL Hum. Mutat. 7:167-171(1996).
RN [20]
RP VARIANT CMTX1 CYS-7.
RX PubMed=8807343;
RX DOI=10.1002/(sici)1098-1004(1996)8:1<83::aid-humu14>3.0.co;2-n;
RA Schiavon F., Fracasso C., Mostacciuolo M.L.;
RT "Novel missense mutation of the connexin32 (GJB1) gene in X-linked dominant
RT Charcot-Marie-Tooth neuropathy.";
RL Hum. Mutat. 8:83-84(1996).
RN [21]
RP VARIANTS CMTX1 LEU-26 AND SER-53.
RX PubMed=8889588;
RX DOI=10.1002/(sici)1098-1004(1996)8:3<270::aid-humu12>3.0.co;2-#;
RA Yoshimura T., Ohnishi A., Yamamoto T., Fukushima Y., Kitani M.,
RA Kobayashi T.;
RT "Two novel mutations (C53S, S26L) in the connexin32 of Charcot-Marie-Tooth
RT disease type X families.";
RL Hum. Mutat. 8:270-272(1996).
RN [22]
RP VARIANT CMTX1 SER-3.
RX PubMed=8956046;
RX DOI=10.1002/(sici)1098-1004(1996)8:4<375::aid-humu14>3.0.co;2-#;
RA Gupta S., Benstead T., Neumann P., Guernsey D.;
RT "A point mutation in codon 3 of connexin-32 is associated with X-linked
RT Charcot-Marie-Tooth neuropathy.";
RL Hum. Mutat. 8:375-376(1996).
RN [23]
RP VARIANT CMTX1 TRP-164.
RX PubMed=8733054; DOI=10.1136/jmg.33.5.413;
RA Oterino A., Monton F.I., Cabrera V.M., Pinto F., Gonzalez A., Lavilla N.R.;
RT "Arginine-164-tryptophan substitution in connexin32 associated with X
RT linked dominant Charcot-Marie-Tooth disease.";
RL J. Med. Genet. 33:413-415(1996).
RN [24]
RP VARIANT CMTX1 TYR-49.
RX PubMed=8628473; DOI=10.1212/wnl.46.5.1311;
RA Timmerman V., de Jonghe P., Spoelders P., Simokovic S., Loefgren A.,
RA Nelis E., Vance J., Martin J.-J., van Broeckhoven C.;
RT "Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2
RT families with chromosomes 1p35-p36 and Xq13.";
RL Neurology 46:1311-1318(1996).
RN [25]
RP VARIANTS CMTX1 VAL-34; HIS-90; TRP-107; TRP-142; PHE-156 AND LYS-186.
RX PubMed=9018031; DOI=10.1159/000117403;
RA Latour P., Fabreguette A., Ressot C., Blanquet-Grossard F., Antoine J.-C.,
RA Calvas P., Chapon F., Corbillon E., Ollagnon E., Sturtz F., Boucherat M.,
RA Chazot G., Dautigny A., Pham-Dinh D., Vandenberghe A.;
RT "New mutations in the X-linked form of Charcot-Marie-Tooth disease.";
RL Eur. Neurol. 37:38-42(1997).
RN [26]
RP VARIANTS CMTX1 TRP-15; ILE-63; CYS-65; SER-87; PRO-89; MET-139 AND ARG-199.
RX PubMed=9099841; DOI=10.1007/s004390050396;
RA Janssen E.A.M., Kemp S., Hensels G.W., Sie O.G., de Die-Smulders C.E.M.,
RA Hoogendijk J.E., de Visser M., Bolhuis P.A.;
RT "Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease
RT (CMTX1).";
RL Hum. Genet. 99:501-505(1997).
RN [27]
RP VARIANTS CMTX1 ALA-23; SER-64; SER-87; TRP-164; GLN-164; SER-183; HIS-183;
RP CYS-183 AND TRP-215.
RX PubMed=9187667; DOI=10.1007/s004390050442;
RA Bort S., Nelis E., Timmerman V., Sevilla T., Cruz-Martinez A., Martinez F.,
RA Millan J.M., Arpa J., Vilchez J.J., Prieto F., van Broeckhoven C.,
RA Palau F.;
RT "Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of
RT Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy
RT with liability to pressure palsies.";
RL Hum. Genet. 99:746-754(1997).
RN [28]
RP VARIANTS CMTX1 GLN-22; GLN-75; TRP-75; TRY-107; MET-139 AND VAL-194.
RX PubMed=9272161; DOI=10.1007/s004390050522;
RA Silander K., Meretoja P., Pihko H., Juvonen V., Issakainen J., Aula P.,
RA Savontaus M.L.;
RT "Screening for connexin 32 mutations in Charcot-Marie-Tooth disease
RT families with possible X-linked inheritance.";
RL Hum. Genet. 100:391-397(1997).
RN [29]
RP VARIANTS CMTX1 PHE-25; LEU-26; ALA-87 AND HIS-238.
RX PubMed=8990008;
RX DOI=10.1002/(sici)1098-1004(1997)9:1<47::aid-humu8>3.0.co;2-m;
RA Nelis E., Simokovic S., Timmerman V., Loefgren A., Backhovens H.,
RA de Jonghe P., Martin J.-J., Van Broeckhoven C.;
RT "Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth
RT neuropathy type 1: identification of five new mutations.";
RL Hum. Mutat. 9:47-52(1997).
RN [30]
RP VARIANTS THR-34; ILE-84; MET-95; TRP-107; ARG-133; LEU-141; ALA-158;
RP ASN-203; SER-205 AND 213-ILE-ILE-214 DELINS LEU.
RX PubMed=9401007;
RX DOI=10.1002/(sici)1098-1004(1997)10:6<443::aid-humu5>3.0.co;2-e;
RA Rouger H., Leguern E., Birouk N., Gouider R., Tardieu S., Plassart E.,
RA Gugenheim M., Vallat J.-M., Louboutin J.-P., Bouche P., Agid Y., Brice A.;
RT "Charcot-Marie-Tooth disease with intermediate motor nerve conduction
RT velocities: characterization of 14 Cx32 mutations in 35 families.";
RL Hum. Mutat. 10:443-452(1997).
RN [31]
RP VARIANTS CMTX1 ARG-3; SER-3; CYS-7; SER-12; LEU-13; MET-13; LYS-14; GLN-15;
RP TRP-15; PRO-16; SER-20; ASP-21; GLN-22; PRO-22; GLY-22; ALA-23; PHE-25;
RP LEU-26; ASN-28; THR-28; LEU-29; ASN-30; THR-34; VAL-34; MET-35; MET-38;
RP VAL-40; LYS-41; LEU-44; TYR-49; SER-53; PHE-56; PHE-60; ILE-63; SER-64;
RP CYS-65; GLN-75; PRO-75; TRP-75; SER-77; ARG-80; CYS-85; PHE-85; ALA-86;
RP ASN-86; SER-86; ALA-87; LEU-87; SER-87; PRO-89; HIS-90; VAL-93; GLN-94;
RP TYR-94; MET-95; TYR-100; GLY-102; GLU-103; TRP-107; HIS-111--116-HIS DEL;
RP ASN-124; PRO-128; ARG-133; MET-139; TRP-142; GLU-142; LEU-143 DEL; ARG-156;
RP PHE-156; CYS-157; ALA-158; ARG-158; HIS-160; PRO-161; TRP-164; GLN-164;
RP SER-172; LEU-172; TYR-178; ARG-179; LEU-180; MET-181; THR-182; CYS-183;
RP SER-183; HIS-183; THR-185 DEL; LYS-186; GLU-187; GLY-189; ILE-189;
RP 191-THR--PHE-193 DEL; CYS-193; PHE-198; ARG-199; ARG-201; VAL-204; SER-205;
RP LYS-208; TRP-215; CYS-219; HIS-219; GLY-220; CYS-230; LEU-230; CYS-235 AND
RP HIS-238.
RX PubMed=9361298; DOI=10.1006/nbdi.1997.0152;
RA Bone L.J., Deschenes S.M., Balice-Gordon R.J., Fischbeck K.H.,
RA Scherer S.S.;
RT "Connexin32 and X-linked Charcot-Marie-Tooth disease.";
RL Neurobiol. Dis. 4:221-230(1997).
RN [32]
RP VARIANTS CMTX1 PRO-22; GLY-22; VAL-34; PRO-50; PHE-56; TRP-75; HIS-90;
RP TRP-107; ARG-133; TRP-142; PHE-156; SER-159; ARG-184; LYS-186 AND TRP-215.
RX PubMed=10732813; DOI=10.1007/s100480050017;
RA Latour P., Levy N., Paret M., Chapon F., Chazot G., Clavelou P.,
RA Couratier P., Dumas R., Ollagnon E., Pouget J., Setiey A., Vallat J.-M.,
RA Boucherat M., Fontes M., Vandenberghe A.;
RT "Mutations in the X-linked form of Charcot-Marie-Tooth disease in the
RT French population.";
RL Neurogenetics 1:117-123(1997).
RN [33]
RP VARIANTS CMTX1 MET-37; HIS-57; LEU-172 AND ALA-177.
RX PubMed=9856562;
RX DOI=10.1002/(sici)1096-8628(19981204)80:4<352::aid-ajmg9>3.0.co;2-r;
RA Ikegami T., Lin C., Kato M., Itoh A., Nonaka I., Kurimura M.,
RA Hirayabashi H., Shinohara Y., Mochizuki A., Hayasaka K.;
RT "Four novel mutations of the connexin 32 gene in four Japanese families
RT with Charcot-Marie-Tooth disease type 1.";
RL Am. J. Med. Genet. 80:352-355(1998).
RN [34]
RP VARIANTS CMTX1 SER-3; GLN-22; ALA-70; SER-77; ARG-80; MET-95; GLY-102;
RP TRP-142; TRP-164 AND SER-180.
RX PubMed=10873293; DOI=10.1006/cbir.1998.0387;
RA Ionasescu V.V.;
RT "X-linked Charcot-Marie-Tooth disease and connexin32.";
RL Cell Biol. Int. 22:807-813(1998).
RN [35]
RP VARIANT CMTX1 ARG-201.
RX PubMed=9452025; DOI=10.1002/humu.1380110104;
RA Sillen A., Anneren G., Dahl N.;
RT "A novel mutation (C201R) in the transmembrane domain of connexin 32 in
RT severe X-linked Charcot-Marie-Tooth disease.";
RL Hum. Mutat. Suppl. 1:S8-S9(1998).
RN [36]
RP VARIANTS CMTX1 TRP-15; PHE-60; ALA-86; TYR-100; CYS-133 AND SER-205.
RX PubMed=9452099; DOI=10.1002/humu.1380110178;
RA Sorour E., Upadhyaya M.;
RT "Mutation analysis in Charcot-Marie-Tooth disease type 1 (CMT1).";
RL Hum. Mutat. Suppl. 1:S242-S247(1998).
RN [37]
RP VARIANTS CMTX1 GLN-22; ARG-58; ILE-63; LEU-172; ASP-175 AND PHE-204.
RX PubMed=9633821;
RX DOI=10.1002/(sici)1098-1004(1998)12:1<59::aid-humu9>3.0.co;2-a;
RA Silander K., Meretoja P., Juvonen V., Ignatius J., Pihko H., Saarinen A.,
RA Wallden T., Herrgaard E., Aula P., Savontaus M.-L.;
RT "Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease
RT and related neuropathies.";
RL Hum. Mutat. 12:59-68(1998).
RN [38]
RP VARIANTS CMTX1 SER-53 AND ARG-172, AND CHARACTERIZATION OF VARIANTS CMTX1
RP SER-53 AND ARG-172.
RX PubMed=9469569;
RX DOI=10.1002/(sici)1097-4547(19980115)51:2<154::aid-jnr4>3.0.co;2-c;
RA Yoshimura T., Satake M., Ohnishi A., Tsutsumi Y., Fujikura Y.;
RT "Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere
RT with cell-to-cell communication but not cell proliferation and myelin-
RT specific gene expression.";
RL J. Neurosci. Res. 51:154-161(1998).
RN [39]
RP VARIANTS CMTX1 TRP-9; GLN-22; THR-28; THR-30; THR-34; MET-35; TRP-107;
RP MET-127; PRO-131; ALA-158; THR-182; PHE-192 AND ILE-239.
RX PubMed=9818870; DOI=10.1212/wnl.51.5.1412;
RA Nicholson G.A., Yeung L., Corbett A.;
RT "Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth
RT families: ten novel mutations.";
RL Neurology 51:1412-1416(1998).
RN [40]
RP VARIANTS CMTX1 GLN-22; VAL-39; MET-43; PHE-60; THR-104; MET-139; GLN-142;
RP TRP-142; VAL-149 AND GLU-177.
RX PubMed=10586284; DOI=10.1111/j.1749-6632.1999.tb08621.x;
RA Williams M.M., Tyfield L.A., Jardine P., Lunt P.W., Stevens D.L.,
RA Turnpenny P.D.;
RT "HMSN and HNPP. Laboratory service provision in the south west of England
RT -- two years' experience.";
RL Ann. N. Y. Acad. Sci. 883:500-503(1999).
RN [41]
RP VARIANTS CMTX1 ILE-55; GLU-120 AND GLN-164.
RX PubMed=10220155;
RA Karadimas C., Panas M., Chronopoulou P., Avramopoulos D., Vassilopoulos D.;
RT "Three novel mutations in the gap junction beta 1 (GJB1) gene coding region
RT identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q,
RT V120E.";
RL Hum. Mutat. 13:339-339(1999).
RN [42]
RP VARIANT CMTX1 SER-205.
RX PubMed=10071100; DOI=10.1136/jnnp.66.2.202;
RA Baehr M., Andres F., Timmerman V., Nelis M.E., Van Broeckhoven C.,
RA Dichgans J.;
RT "Central visual, acoustic, and motor pathway involvement in a Charcot-
RT Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.";
RL J. Neurol. Neurosurg. Psych. 66:202-206(1999).
RN [43]
RP CHARACTERIZATION OF VARIANTS CMTX1 LYS-208; GLN-215; TRP-215; HIS-238 AND
RP GLY-280.
RX PubMed=10234007; DOI=10.1523/jneurosci.19-10-03752.1999;
RA Castro C., Gomez-Hernandez J.M., Silander K., Barrio L.C.;
RT "Altered formation of hemichannels and gap junction channels caused by C-
RT terminal connexin-32 mutations.";
RL J. Neurosci. 19:3752-3760(1999).
RN [44]
RP VARIANTS CMTX1 MET-91 AND HIS-211.
RX PubMed=11140841; DOI=10.1034/j.1399-0004.2000.580511.x;
RA Bissar-Tadmouri N., Parman Y., Boutrand L., Deymeer F., Serdaroglu P.,
RA Vandenberghe A., Battaloglu E.;
RT "Mutational analysis and genotype/phenotype correlation in Turkish Charcot-
RT Marie-Tooth type 1 and HNPP patients.";
RL Clin. Genet. 58:396-402(2000).
RN [45]
RP VARIANT CMTX1 TYR-126.
RX PubMed=11030070; DOI=10.1053/ejpn.2000.0311;
RA Verhelst H.E., Lofgren A., Van Coster R.N.;
RT "A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32
RT mutation.";
RL Eur. J. Paediatr. Neurol. 4:235-238(2000).
RN [46]
RP VARIANT CMTX1 ARG-59.
RX PubMed=10894999; DOI=10.1159/000008196;
RA Felice K.J., Seltzer W.K.;
RT "Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations
RT [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.";
RL Eur. Neurol. 44:61-63(2000).
RN [47]
RP VARIANTS CMTX1 20-ASN-SER-21; LYS-34; ARG-80; VAL-90; VAL-93; TRP-107;
RP TRP-142; GLN-164; HIS-183; LYS-186; LEU-193 AND LYS-208.
RX PubMed=10737979;
RX DOI=10.1002/(sici)1098-1004(200004)15:4<340::aid-humu6>3.0.co;2-y;
RA Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L., Fedotov V.P.,
RA Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C., Evgrafov O.V.;
RT "Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32
RT (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.";
RL Hum. Mutat. 15:340-347(2000).
RN [48]
RP ERRATUM OF PUBMED:10737979.
RA Mersiyanova I.V., Ismailov S.M., Polyakov A.V., Dadali E.L., Fedotov V.P.,
RA Nelis E., Loefgren A., Timmerman V., Van Broeckhoven C., Evgrafov O.V.;
RL Hum. Mutat. 16:175-175(2000).
RN [49]
RP VARIANTS CMTX1 LEU-69; GLN-142 AND GLN-164.
RX PubMed=10923043;
RX DOI=10.1002/1098-1004(200008)16:2<177::aid-humu14>3.0.co;2-5;
RA Yoshihara T., Yamamoto M., Doyu M., Misu K., Hattori N., Hasegawa Y.,
RA Mokuno K., Mitsuma T., Sobue G.;
RT "Mutations in the peripheral myelin protein zero and connexin32 genes
RT detected by non-isotopic RNase cleavage assay and their phenotypes in
RT Japanese patients with Charcot-Marie-Tooth disease.";
RL Hum. Mutat. 16:177-178(2000).
RN [50]
RP VARIANT CMTX1 ILE-8.
RX PubMed=10938190; DOI=10.1007/s100720070105;
RA Di Iorio G., Cappa V., Ciccodicola A., Sampaolo S., Ammendola A.,
RA Sanges G., Giugliano R., D'Urso M.;
RT "A new de novo mutation of the connexin-32 gene in a patient with X-linked
RT Charcot-Marie-Tooth type 1 disease.";
RL Neurol. Sci. 21:109-112(2000).
RN [51]
RP VARIANTS CMTX1 GLY-22; THR-34; VAL-34; PHE-56; ILE-84; MET-91; ASP-94;
RP GLN-94; MET-95; TRP-107; ILE-130; ARG-133; LEU-141; GLN-142; ALA-158;
RP ASP-159; TRP-164; GLN-164; LYS-186; ARG-199; ASN-203; SER-205;
RP 213-ILE-ILE-214 DELINS LEU AND TRP-215, AND CHARACTERIZATION OF VARIANTS
RP CMTX1 GLY-22; THR-34; PHE-56; GLN-94; MET-95; LYS-186 AND TRP-215.
RX PubMed=11571214; DOI=10.1093/brain/124.10.1958;
RA Dubourg O., Tardieu S., Birouk N., Gouider R., Leger J.M., Maisonobe T.,
RA Brice A., Bouche P., LeGuern E.;
RT "Clinical, electrophysiological and molecular genetic characteristics of 93
RT patients with X-linked Charcot-Marie-Tooth disease.";
RL Brain 124:1958-1967(2001).
RN [52]
RP VARIANT CMTX1 GLY-208.
RX PubMed=11180613;
RX DOI=10.1002/1098-1004(200102)17:2<157::aid-humu22>3.0.co;2-e;
RA Kochanski A., Lofgren A., Jedrzejowska H., Ryniewicz B.,
RA Czarny-Ratajczak M., Barciszewska A.-M., Samocko J.,
RA Hausmanowa-Petrusewicz I., De Jonghe P., Timmerman V., Latos-Bielenska A.;
RT "A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth
RT disease.";
RL Hum. Mutat. 17:157-157(2001).
RN [53]
RP VARIANTS CMTX1 CYS-7; PRO-8; GLN-22; PRO-25; ASN-30; CYS-59; MET-139;
RP LEU-143 DEL; SER-151; TRP-164 AND LEU-184.
RX PubMed=11438991; DOI=10.1002/humu.1147;
RA Mostacciuolo M.L., Righetti E., Zortea M., Bosello V., Schiavon F.,
RA Vallo L., Merlini L., Siciliano G., Fabrizi G.M., Rizzuto N., Milani M.,
RA Baratta S., Taroni F.;
RT "Charcot-Marie-Tooth disease type I and related demyelinating neuropathies:
RT mutation analysis in a large cohort of Italian families.";
RL Hum. Mutat. 18:32-41(2001).
RN [54]
RP VARIANT CMTX1 HIS-65.
RX PubMed=11562788;
RA Seeman P., Mazanec R., Ctvrteckova M., Smilkova D.;
RT "Charcot-Marie-Tooth type X: a novel mutation in the Cx32 gene with central
RT conduction slowing.";
RL Int. J. Mol. Med. 8:461-468(2001).
RN [55]
RP VARIANTS CMTX1 TRP-26; PHE-64; TRP-142; TRP-164 AND TRP-215.
RX PubMed=11437164; DOI=10.1007/s004150170183;
RA Young P., Grote K., Kuhlenbaeumer G., Debus O., Kurlemann H., Halfter H.,
RA Funke H., Ringelstein E.B., Stoegbauer F.;
RT "Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations
RT in the MPZ gene and the GJB1 gene cause comparable phenotypic
RT heterogeneity.";
RL J. Neurol. 248:410-415(2001).
RN [56]
RP VARIANT CMTX1 ILE-55.
RX PubMed=11723288; DOI=10.1212/wnl.57.10.1906;
RA Panas M., Kalfakis N., Karadimas C., Vassilopoulos D.;
RT "Episodes of generalized weakness in two sibs with the C164T mutation of
RT the connexin 32 gene.";
RL Neurology 57:1906-1908(2001).
RN [57]
RP VARIANTS CMTX1 TRP-15; GLN-22; GLY-102; PRO-108; ILE-205 AND TRP-215.
RX PubMed=11835375; DOI=10.1002/ana.10089;
RA Boerkoel C.F., Takashima H., Garcia C.A., Olney R.K., Johnson J., Berry K.,
RA Russo P., Kennedy S., Teebi A.S., Scavina M., Williams L.L., Mancias P.,
RA Butler I.J., Krajewski K., Shy M., Lupski J.R.;
RT "Charcot-Marie-Tooth disease and related neuropathies: mutation
RT distribution and genotype-phenotype correlation.";
RL Ann. Neurol. 51:190-201(2002).
RN [58]
RP VARIANTS CMTX1 TRP-142 AND TYR-168.
RX PubMed=12325071; DOI=10.1002/ana.10305;
RA Paulson H.L., Garbern J.Y., Hoban T.F., Krajewski K.M., Lewis R.A.,
RA Fischbeck K.H., Grossman R.I., Lenkinski R., Kamholz J.A., Shy M.E.;
RT "Transient central nervous system white matter abnormality in X-linked
RT Charcot-Marie-Tooth disease.";
RL Ann. Neurol. 52:429-434(2002).
RN [59]
RP VARIANTS CMTX1 TRP-75; GLN-75; VAL-120 DEL; MET-139; LYS-146; ASP-147;
RP VAL-209 DEL AND CYS-264.
RX PubMed=12402337; DOI=10.1002/humu.10134;
RA Numakura C., Lin C., Ikegami T., Guldberg P., Hayasaka K.;
RT "Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease:
RT DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.";
RL Hum. Mutat. 20:392-398(2002).
RN [60]
RP VARIANTS CMTX1 CYS-24; ARG-55; ASP-125 AND SER-153.
RX PubMed=12185164; DOI=10.1136/jnnp.73.3.304;
RA Lee M.-J., Nelson I., Houlden H., Sweeney M.G., Hilton-Jones D., Blake J.,
RA Wood N.W., Reilly M.M.;
RT "Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth
RT disease.";
RL J. Neurol. Neurosurg. Psych. 73:304-306(2002).
RN [61]
RP CHARACTERIZATION OF VARIANTS CMTX ILE-34; LYS-34; THR-34; VAL-34; MET-35;
RP MET-37; MET-38; VAL-40; GLN-75; PRO-75; TRP-75; ILE-205; VAL-213; CYS-219;
RP HIS-219; GLY-220; CYS-230; LEU-230; HIS-238 AND ILE-239.
RX PubMed=12460545; DOI=10.1006/nbdi.2002.0545;
RA Yum S.W., Kleopa K.A., Shumas S., Scherer S.S.;
RT "Diverse trafficking abnormalities of connexin32 mutants causing CMTX.";
RL Neurobiol. Dis. 11:43-52(2002).
RN [62]
RP VARIANT CMTX1 THR-40.
RX PubMed=12536289; DOI=10.1007/s100720200061;
RA Ma W., Farrukh Nizam M., Grewal R.P.;
RT "X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in
RT the connexin-32 gene.";
RL Neurol. Sci. 23:195-197(2002).
RN [63]
RP VARIANT CMTX1 PRO-49.
RX PubMed=12207932; DOI=10.1016/s0960-8966(02)00021-4;
RA Street V.A., Meekins G., Lipe H.P., Seltzer W.K., Carter G.T., Kraft G.H.,
RA Bird T.D.;
RT "Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel
RT mutations in the MPZ and Cx 32 genes.";
RL Neuromuscul. Disord. 12:643-650(2002).
RN [64]
RP CHARACTERIZATION OF VARIANT CMTX1 CYS-85.
RX PubMed=11891346; DOI=10.1073/pnas.261713499;
RA Abrams C.K., Bennett M.V.L., Verselis V.K., Bargiello T.A.;
RT "Voltage opens unopposed gap junction hemichannels formed by a connexin 32
RT mutant associated with X-linked Charcot-Marie-Tooth disease.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:3980-3984(2002).
RN [65]
RP VARIANT CMTX1 GLU-102 DEL.
RX PubMed=12707076; DOI=10.1001/archneur.60.4.605;
RA Hanemann C.O., Bergmann C., Senderek J., Zerres K., Sperfeld A.-D.;
RT "Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth
RT disease with novel connexin 32 mutation.";
RL Arch. Neurol. 60:605-609(2003).
RN [66]
RP VARIANTS CMTX1 LEU-26; ALA-55; HIS-57; ILE-63; LEU-69; MET-139; GLN-142;
RP TRP-142; ARG-172; ALA-177; HIS-183; ALA-191 AND TYR-201.
RX PubMed=12477701; DOI=10.1093/brain/awg012;
RG The study group for hereditary neuropathy in Japan;
RA Hattori N., Yamamoto M., Yoshihara T., Koike H., Nakagawa M., Yoshikawa H.,
RA Ohnishi A., Hayasaka K., Onodera O., Baba M., Yasuda H., Saito T.,
RA Nakashima K., Kira J., Kaji R., Oka N., Sobue G.;
RT "Demyelinating and axonal features of Charcot-Marie-Tooth disease with
RT mutations of myelin-related proteins (PMP22, MPZ and Cx32): a
RT clinicopathological study of 205 Japanese patients.";
RL Brain 126:134-151(2003).
RN [67]
RP VARIANTS CMTX1 7-TYR-THR-8 DELINS SER; ASN-138; GLN-164; ALA-172 AND
RP SER-205.
RX PubMed=12497641; DOI=10.1002/humu.9101;
RA Huehne K., Benes V., Thiel C., Kraus C., Kress W., Hoeltzenbein M.,
RA Ploner C.J., Kotzian J., Reis A., Rott H.D., Rautenstrauss B.W.;
RT "Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and
RT GJB1.";
RL Hum. Mutat. 21:100-100(2003).
RN [68]
RP VARIANTS CMTX1 GLY-102 AND ALA-181, AND CHARACTERIZATION OF VARIANTS CMTX1
RP GLY-102 AND ALA-181.
RX PubMed=14627639; DOI=10.1523/jneurosci.23-33-10548.2003;
RA Abrams C.K., Freidin M., Bukauskas F., Dobrenis K., Bargiello T.A.,
RA Verselis V.K., Bennett M.V.L., Chen L., Sahenk Z.;
RT "Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects
RT of two mutations in connexin 32.";
RL J. Neurosci. 23:10548-10558(2003).
RN [69]
RP VARIANTS CMTX1 ALA-136; GLN-164 AND ARG-168.
RX PubMed=15241803; DOI=10.1002/humu.9261;
RA Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K.,
RA Sunwoo I.N., Kim N.K., Chung K.W.;
RT "Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-
RT Marie-Tooth neuropathy patients.";
RL Hum. Mutat. 24:185-186(2004).
RN [70]
RP ERRATUM OF PUBMED:15241803.
RA Choi B.-O., Lee M.S., Shin S.H., Hwang J.H., Choi K.-G., Kim W.-K.,
RA Sunwoo I.N., Kim N.K., Chung K.W.;
RL Hum. Mutat. 24:350-350(2004).
RN [71]
RP VARIANT CMTX1 CYS-235, AND CHARACTERIZATION OF VARIANT CMTX1 CYS-235.
RX PubMed=15852376; DOI=10.1002/ana.20459;
RA Liang G.S.L., de Miguel M., Gomez-Hernandez J.M., Glass J.D., Scherer S.S.,
RA Mintz M., Barrio L.C., Fischbeck K.H.;
RT "Severe neuropathy with leaky connexin32 hemichannels.";
RL Ann. Neurol. 57:749-754(2005).
RN [72]
RP VARIANT CMTX1 SER-127.
RX PubMed=15468313; DOI=10.1002/mus.20166;
RA Vondracek P., Seeman P., Hermanova M., Fajkusova L.;
RT "X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel
RT mutation Ile127Ser in the GJB1 (connexin 32) gene.";
RL Muscle Nerve 31:252-255(2005).
RN [73]
RP VARIANT DSS ALA-136.
RX PubMed=15947997; DOI=10.1007/s10048-005-0217-4;
RA Chung K.W., Sunwoo I.N., Kim S.M., Park K.D., Kim W.-K., Kim T.S., Koo H.,
RA Cho M., Lee J., Choi B.O.;
RT "Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-
RT Tooth disease family.";
RL Neurogenetics 6:159-163(2005).
RN [74]
RP VARIANT CMTX1 GLU-124.
RX PubMed=27234031; DOI=10.1111/cge.12810;
RA Fattahi Z., Kalhor Z., Fadaee M., Vazehan R., Parsimehr E., Abolhassani A.,
RA Beheshtian M., Zamani G., Nafissi S., Nilipour Y., Akbari M.R., Kahrizi K.,
RA Kariminejad A., Najmabadi H.;
RT "Improved diagnostic yield of neuromuscular disorders applying clinical
RT exome sequencing in patients arising from a consanguineous population.";
RL Clin. Genet. 91:386-402(2017).
CC -!- FUNCTION: One gap junction consists of a cluster of closely packed
CC pairs of transmembrane channels, the connexons, through which materials
CC of low MW diffuse from one cell to a neighboring cell.
CC -!- SUBUNIT: A connexon is composed of a hexamer of connexins. Interacts
CC with CNST (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC P08034; O95236-2: APOL3; NbExp=3; IntAct=EBI-17565645, EBI-11976321;
CC P08034; O95393: BMP10; NbExp=3; IntAct=EBI-17565645, EBI-3922513;
CC P08034; O14523: C2CD2L; NbExp=3; IntAct=EBI-17565645, EBI-12822627;
CC P08034; P11049: CD37; NbExp=3; IntAct=EBI-17565645, EBI-6139068;
CC P08034; P11912: CD79A; NbExp=3; IntAct=EBI-17565645, EBI-7797864;
CC P08034; O14735: CDIPT; NbExp=3; IntAct=EBI-17565645, EBI-358858;
CC P08034; Q9BXN2-6: CLEC7A; NbExp=3; IntAct=EBI-17565645, EBI-11989440;
CC P08034; Q96MX0: CMTM3; NbExp=3; IntAct=EBI-17565645, EBI-7247651;
CC P08034; Q96DZ9-2: CMTM5; NbExp=3; IntAct=EBI-17565645, EBI-11522780;
CC P08034; P21964: COMT; NbExp=3; IntAct=EBI-17565645, EBI-372265;
CC P08034; Q4LDR2: CTXN3; NbExp=3; IntAct=EBI-17565645, EBI-12019274;
CC P08034; Q07325: CXCL9; NbExp=3; IntAct=EBI-17565645, EBI-3911467;
CC P08034; P52803: EFNA5; NbExp=3; IntAct=EBI-17565645, EBI-1753674;
CC P08034; P54852: EMP3; NbExp=3; IntAct=EBI-17565645, EBI-3907816;
CC P08034; P29033: GJB2; NbExp=3; IntAct=EBI-17565645, EBI-3905204;
CC P08034; O00155: GPR25; NbExp=3; IntAct=EBI-17565645, EBI-10178951;
CC P08034; Q9Y5U9: IER3IP1; NbExp=3; IntAct=EBI-17565645, EBI-725665;
CC P08034; P11215: ITGAM; NbExp=3; IntAct=EBI-17565645, EBI-2568251;
CC P08034; O43561-2: LAT; NbExp=3; IntAct=EBI-17565645, EBI-8070286;
CC P08034; Q6ZUX7: LHFPL2; NbExp=3; IntAct=EBI-17565645, EBI-17566767;
CC P08034; P21145: MAL; NbExp=3; IntAct=EBI-17565645, EBI-3932027;
CC P08034; Q969L2: MAL2; NbExp=3; IntAct=EBI-17565645, EBI-944295;
CC P08034; Q9GZY8-5: MFF; NbExp=3; IntAct=EBI-17565645, EBI-11956541;
CC P08034; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-17565645, EBI-12070086;
CC P08034; Q9NX14: NDUFB11; NbExp=3; IntAct=EBI-17565645, EBI-1246182;
CC P08034; Q0D2K0: NIPAL4; NbExp=3; IntAct=EBI-17565645, EBI-9550165;
CC P08034; P43378: PTPN9; NbExp=3; IntAct=EBI-17565645, EBI-742898;
CC P08034; Q5QGT7: RTP2; NbExp=3; IntAct=EBI-17565645, EBI-10244780;
CC P08034; O00767: SCD; NbExp=3; IntAct=EBI-17565645, EBI-2684237;
CC P08034; A2A2V5: SERTM1; NbExp=3; IntAct=EBI-17565645, EBI-17284533;
CC P08034; Q9Y666-2: SLC12A7; NbExp=3; IntAct=EBI-17565645, EBI-12854384;
CC P08034; Q9UNK0: STX8; NbExp=3; IntAct=EBI-17565645, EBI-727240;
CC P08034; Q9Y6I9: TEX264; NbExp=3; IntAct=EBI-17565645, EBI-10329860;
CC P08034; P02787: TF; NbExp=3; IntAct=EBI-17565645, EBI-714319;
CC P08034; P48230: TM4SF4; NbExp=3; IntAct=EBI-17565645, EBI-8650934;
CC P08034; A0PK00: TMEM120B; NbExp=3; IntAct=EBI-17565645, EBI-10171534;
CC P08034; Q9P0S9: TMEM14C; NbExp=3; IntAct=EBI-17565645, EBI-2339195;
CC P08034; Q96HH6: TMEM19; NbExp=3; IntAct=EBI-17565645, EBI-741829;
CC P08034; A2RU14: TMEM218; NbExp=3; IntAct=EBI-17565645, EBI-10173151;
CC P08034; Q9Y2Y6: TMEM98; NbExp=3; IntAct=EBI-17565645, EBI-7333781;
CC P08034; Q5BVD1: TTMP; NbExp=3; IntAct=EBI-17565645, EBI-10243654;
CC P08034; O75841: UPK1B; NbExp=3; IntAct=EBI-17565645, EBI-12237619;
CC P08034; P15692-12: VEGFA; NbExp=3; IntAct=EBI-17565645, EBI-6622053;
CC P08034; Q96EC8: YIPF6; NbExp=3; IntAct=EBI-17565645, EBI-751210;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell
CC junction, gap junction.
CC -!- DISEASE: Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1)
CC [MIM:302800]: A form of Charcot-Marie-Tooth disease, a disorder of the
CC peripheral nervous system, characterized by progressive weakness and
CC atrophy, initially of the peroneal muscles and later of the distal
CC muscles of the arms. Charcot-Marie-Tooth disease is classified in two
CC main groups on the basis of electrophysiologic properties and
CC histopathology: primary peripheral demyelinating neuropathies
CC characterized by severely reduced motor nerve conduction velocities
CC (NCVs) (less than 38m/s) and segmental demyelination and remyelination,
CC and primary peripheral axonal neuropathies characterized by normal or
CC mildly reduced NCVs and chronic axonal degeneration and regeneration on
CC nerve biopsy. CMTX1 has both demyelinating and axonal features. Central
CC nervous system involvement may occur. {ECO:0000269|PubMed:10071100,
CC ECO:0000269|PubMed:10220155, ECO:0000269|PubMed:10234007,
CC ECO:0000269|PubMed:10586284, ECO:0000269|PubMed:10732813,
CC ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:10873293,
CC ECO:0000269|PubMed:10894999, ECO:0000269|PubMed:10923043,
CC ECO:0000269|PubMed:10938190, ECO:0000269|PubMed:11030070,
CC ECO:0000269|PubMed:11140841, ECO:0000269|PubMed:11180613,
CC ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11438991,
CC ECO:0000269|PubMed:11562788, ECO:0000269|PubMed:11571214,
CC ECO:0000269|PubMed:11723288, ECO:0000269|PubMed:11835375,
CC ECO:0000269|PubMed:11891346, ECO:0000269|PubMed:12185164,
CC ECO:0000269|PubMed:12207932, ECO:0000269|PubMed:12325071,
CC ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12477701,
CC ECO:0000269|PubMed:12497641, ECO:0000269|PubMed:12536289,
CC ECO:0000269|PubMed:12707076, ECO:0000269|PubMed:14627639,
CC ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:15468313,
CC ECO:0000269|PubMed:15852376, ECO:0000269|PubMed:27234031,
CC ECO:0000269|PubMed:7477983, ECO:0000269|PubMed:7833935,
CC ECO:0000269|PubMed:8004109, ECO:0000269|PubMed:8162049,
CC ECO:0000269|PubMed:8266101, ECO:0000269|PubMed:8628473,
CC ECO:0000269|PubMed:8698335, ECO:0000269|PubMed:8733054,
CC ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:8807343,
CC ECO:0000269|PubMed:8829637, ECO:0000269|PubMed:8889588,
CC ECO:0000269|PubMed:8956046, ECO:0000269|PubMed:8990008,
CC ECO:0000269|PubMed:9018031, ECO:0000269|PubMed:9099841,
CC ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9272161,
CC ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9452025,
CC ECO:0000269|PubMed:9452099, ECO:0000269|PubMed:9469569,
CC ECO:0000269|PubMed:9633821, ECO:0000269|PubMed:9818870,
CC ECO:0000269|PubMed:9856562, ECO:0000269|Ref.12}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- DISEASE: Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe
CC degenerating neuropathy of the demyelinating Charcot-Marie-Tooth
CC disease category, with onset by age 2 years. Characterized by motor and
CC sensory neuropathy with very slow nerve conduction velocities,
CC increased cerebrospinal fluid protein concentrations, hypertrophic
CC nerve changes, delayed age of walking as well as areflexia. There are
CC both autosomal dominant and autosomal recessive forms of Dejerine-
CC Sottas syndrome. {ECO:0000269|PubMed:15947997}. Note=The gene
CC represented in this entry may act as a disease modifier.
CC -!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
CC subfamily. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
CC URL="https://uantwerpen.vib.be/CMTMutations";
CC -!- WEB RESOURCE: Name=Connexin-deafness homepage;
CC URL="http://perelman.crg.es/deafness/";
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; X04325; CAA27856.1; -; mRNA.
DR EMBL; AK313474; BAG36259.1; -; mRNA.
DR EMBL; BT019329; AAV38136.1; -; mRNA.
DR EMBL; CH471132; EAX05305.1; -; Genomic_DNA.
DR EMBL; CH471132; EAX05306.1; -; Genomic_DNA.
DR EMBL; BC002805; AAH02805.1; -; mRNA.
DR EMBL; BC022426; AAH22426.1; -; mRNA.
DR EMBL; BC039198; AAH39198.1; -; mRNA.
DR EMBL; L47127; AAA75086.1; -; Genomic_DNA.
DR CCDS; CCDS14408.1; -.
DR PIR; B29005; B29005.
DR RefSeq; NP_000157.1; NM_000166.5.
DR RefSeq; NP_001091111.1; NM_001097642.2.
DR RefSeq; XP_011529209.1; XM_011530907.2.
DR RefSeq; XP_016884897.1; XM_017029408.1.
DR PDB; 5KK9; NMR; -; A=1-22.
DR PDBsum; 5KK9; -.
DR AlphaFoldDB; P08034; -.
DR SMR; P08034; -.
DR BioGRID; 108971; 76.
DR IntAct; P08034; 45.
DR STRING; 9606.ENSP00000363134; -.
DR TCDB; 1.A.24.1.3; the gap junction-forming connexin (connexin) family.
DR iPTMnet; P08034; -.
DR PhosphoSitePlus; P08034; -.
DR BioMuta; GJB1; -.
DR DMDM; 117688; -.
DR jPOST; P08034; -.
DR MassIVE; P08034; -.
DR MaxQB; P08034; -.
DR PaxDb; P08034; -.
DR PeptideAtlas; P08034; -.
DR PRIDE; P08034; -.
DR ProteomicsDB; 52060; -.
DR Antibodypedia; 542; 571 antibodies from 31 providers.
DR DNASU; 2705; -.
DR Ensembl; ENST00000361726.7; ENSP00000354900.6; ENSG00000169562.13.
DR Ensembl; ENST00000374029.2; ENSP00000363141.1; ENSG00000169562.13.
DR Ensembl; ENST00000447581.2; ENSP00000407223.2; ENSG00000169562.13.
DR Ensembl; ENST00000645009.2; ENSP00000494142.2; ENSG00000169562.13.
DR Ensembl; ENST00000646835.1; ENSP00000494596.1; ENSG00000169562.13.
DR Ensembl; ENST00000647424.1; ENSP00000495960.1; ENSG00000169562.13.
DR Ensembl; ENST00000674549.1; ENSP00000502766.1; ENSG00000169562.13.
DR Ensembl; ENST00000674844.1; ENSP00000502556.1; ENSG00000169562.13.
DR Ensembl; ENST00000675209.1; ENSP00000501813.1; ENSG00000169562.13.
DR Ensembl; ENST00000675368.1; ENSP00000501757.1; ENSG00000169562.13.
DR Ensembl; ENST00000675609.1; ENSP00000501571.1; ENSG00000169562.13.
DR GeneID; 2705; -.
DR KEGG; hsa:2705; -.
DR MANE-Select; ENST00000361726.7; ENSP00000354900.6; NM_000166.6; NP_000157.1.
DR UCSC; uc004dzf.4; human.
DR CTD; 2705; -.
DR DisGeNET; 2705; -.
DR GeneCards; GJB1; -.
DR GeneReviews; GJB1; -.
DR HGNC; HGNC:4283; GJB1.
DR HPA; ENSG00000169562; Tissue enhanced (brain, liver).
DR MalaCards; GJB1; -.
DR MIM; 145900; phenotype.
DR MIM; 302800; phenotype.
DR MIM; 304040; gene.
DR neXtProt; NX_P08034; -.
DR OpenTargets; ENSG00000169562; -.
DR Orphanet; 101075; X-linked Charcot-Marie-Tooth disease type 1.
DR Orphanet; 1175; X-linked progressive cerebellar ataxia.
DR PharmGKB; PA28694; -.
DR VEuPathDB; HostDB:ENSG00000169562; -.
DR eggNOG; ENOG502R1QN; Eukaryota.
DR GeneTree; ENSGT01030000234513; -.
DR HOGENOM; CLU_037388_4_1_1; -.
DR InParanoid; P08034; -.
DR OMA; HVAYQQH; -.
DR OrthoDB; 1131301at2759; -.
DR PhylomeDB; P08034; -.
DR TreeFam; TF329606; -.
DR PathwayCommons; P08034; -.
DR Reactome; R-HSA-190704; Oligomerization of connexins into connexons.
DR Reactome; R-HSA-190827; Transport of connexins along the secretory pathway.
DR Reactome; R-HSA-190861; Gap junction assembly.
DR SignaLink; P08034; -.
DR SIGNOR; P08034; -.
DR BioGRID-ORCS; 2705; 16 hits in 697 CRISPR screens.
DR ChiTaRS; GJB1; human.
DR GeneWiki; GJB1; -.
DR GenomeRNAi; 2705; -.
DR Pharos; P08034; Tbio.
DR PRO; PR:P08034; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P08034; protein.
DR Bgee; ENSG00000169562; Expressed in right lobe of liver and 164 other tissues.
DR ExpressionAtlas; P08034; baseline and differential.
DR Genevisible; P08034; HS.
DR GO; GO:0005922; C:connexin complex; TAS:ProtInc.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016328; C:lateral plasma membrane; IEA:Ensembl.
DR GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:1905867; P:epididymis development; IEA:Ensembl.
DR GO; GO:0016264; P:gap junction assembly; TAS:Reactome.
DR GO; GO:0007399; P:nervous system development; TAS:ProtInc.
DR GO; GO:0015868; P:purine ribonucleotide transport; IEA:Ensembl.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR002267; Connexin32.
DR InterPro; IPR019570; Connexin_CCC.
DR InterPro; IPR017990; Connexin_CS.
DR InterPro; IPR013092; Connexin_N.
DR InterPro; IPR038359; Connexin_N_sf.
DR PANTHER; PTHR11984; PTHR11984; 1.
DR Pfam; PF00029; Connexin; 1.
DR PRINTS; PR00206; CONNEXIN.
DR PRINTS; PR01138; CONNEXINB1.
DR SMART; SM00037; CNX; 1.
DR SMART; SM01089; Connexin_CCC; 1.
DR PROSITE; PS00407; CONNEXINS_1; 1.
DR PROSITE; PS00408; CONNEXINS_2; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Cell junction; Cell membrane; Charcot-Marie-Tooth disease;
KW Dejerine-Sottas syndrome; Disease variant; Gap junction; Membrane;
KW Neurodegeneration; Neuropathy; Phosphoprotein; Reference proteome;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..283
FT /note="Gap junction beta-1 protein"
FT /id="PRO_0000057849"
FT TOPO_DOM 1..22
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:2460334"
FT TRANSMEM 23..45
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TOPO_DOM 46..75
FT /note="Extracellular"
FT /evidence="ECO:0000305|PubMed:2460334"
FT TRANSMEM 76..95
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TOPO_DOM 96..130
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:2460334"
FT TRANSMEM 131..153
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TOPO_DOM 154..191
FT /note="Extracellular"
FT /evidence="ECO:0000305|PubMed:2460334"
FT TRANSMEM 192..214
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TOPO_DOM 215..283
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305|PubMed:2460334"
FT MOD_RES 233
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P08033"
FT MOD_RES 258
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 266
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 277
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT VARIANT 3
FT /note="W -> R (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002006"
FT VARIANT 3
FT /note="W -> S (in CMTX1; dbSNP:rs1555936989)"
FT /evidence="ECO:0000269|PubMed:10873293,
FT ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:8956046,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002007"
FT VARIANT 7..8
FT /note="YT -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12497641"
FT /id="VAR_029894"
FT VARIANT 7
FT /note="Y -> C (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11438991,
FT ECO:0000269|PubMed:8807343, ECO:0000269|PubMed:9361298"
FT /id="VAR_002008"
FT VARIANT 8
FT /note="T -> I (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10938190"
FT /id="VAR_029895"
FT VARIANT 8
FT /note="T -> P (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11438991"
FT /id="VAR_002009"
FT VARIANT 9
FT /note="L -> W (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9818870"
FT /id="VAR_029896"
FT VARIANT 11
FT /note="S -> G (in CMTX1)"
FT /id="VAR_002010"
FT VARIANT 12
FT /note="G -> S (in CMTX1; dbSNP:rs1555936999)"
FT /evidence="ECO:0000269|PubMed:8266101,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002011"
FT VARIANT 13
FT /note="V -> L (in CMTX1; dbSNP:rs104894820)"
FT /evidence="ECO:0000269|PubMed:7477983,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002012"
FT VARIANT 13
FT /note="V -> M (in CMTX1; dbSNP:rs104894820)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002013"
FT VARIANT 14
FT /note="N -> K (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002014"
FT VARIANT 15
FT /note="R -> Q (in CMTX1; dbSNP:rs863224974)"
FT /evidence="ECO:0000269|PubMed:8162049,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002015"
FT VARIANT 15
FT /note="R -> W (in CMTX1; moderate; dbSNP:rs116840815)"
FT /evidence="ECO:0000269|PubMed:11835375,
FT ECO:0000269|PubMed:9099841, ECO:0000269|PubMed:9361298,
FT ECO:0000269|PubMed:9452099"
FT /id="VAR_002016"
FT VARIANT 16
FT /note="H -> P (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002017"
FT VARIANT 20..21
FT /note="IG -> NS (in CMTX1)"
FT /id="VAR_029897"
FT VARIANT 20
FT /note="I -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002018"
FT VARIANT 21
FT /note="G -> D (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002019"
FT VARIANT 22
FT /note="R -> G (in CMTX1; non-functional channel)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:8698335,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002020"
FT VARIANT 22
FT /note="R -> P (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:8698335, ECO:0000269|PubMed:9361298"
FT /id="VAR_002021"
FT VARIANT 22
FT /note="R -> Q (in CMTX1; dbSNP:rs1060501002)"
FT /evidence="ECO:0000269|PubMed:10586284,
FT ECO:0000269|PubMed:10873293, ECO:0000269|PubMed:11438991,
FT ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:8737658,
FT ECO:0000269|PubMed:9272161, ECO:0000269|PubMed:9361298,
FT ECO:0000269|PubMed:9633821, ECO:0000269|PubMed:9818870"
FT /id="VAR_002022"
FT VARIANT 23
FT /note="V -> A (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9187667,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002023"
FT VARIANT 24
FT /note="W -> C (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12185164"
FT /id="VAR_029898"
FT VARIANT 25
FT /note="L -> F (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:8990008,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002024"
FT VARIANT 25
FT /note="L -> P (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11438991"
FT /id="VAR_029899"
FT VARIANT 26
FT /note="S -> L (in CMTX1; dbSNP:rs587777876)"
FT /evidence="ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:8889588, ECO:0000269|PubMed:8990008,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002025"
FT VARIANT 26
FT /note="S -> W (in CMTX1; severe)"
FT /evidence="ECO:0000269|PubMed:11437164"
FT /id="VAR_029900"
FT VARIANT 28
FT /note="I -> IIF (in CMTX1)"
FT /id="VAR_002027"
FT VARIANT 28
FT /note="I -> N (in CMTX1; dbSNP:rs768834663)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_029901"
FT VARIANT 28
FT /note="I -> T (in CMTX1; dbSNP:rs768834663)"
FT /evidence="ECO:0000269|PubMed:9361298,
FT ECO:0000269|PubMed:9818870"
FT /id="VAR_002026"
FT VARIANT 29
FT /note="F -> L (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002028"
FT VARIANT 30
FT /note="I -> N (in CMTX1; dbSNP:rs104894817)"
FT /evidence="ECO:0000269|PubMed:11438991,
FT ECO:0000269|PubMed:7477983, ECO:0000269|PubMed:9361298"
FT /id="VAR_002029"
FT VARIANT 30
FT /note="I -> T (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9818870"
FT /id="VAR_029902"
FT VARIANT 34
FT /note="M -> I (in CMTX1; localized in the Golgi apparatus
FT but also forming rare small junction-like plaques;
FT dbSNP:rs1060501000)"
FT /evidence="ECO:0000269|PubMed:12460545"
FT /id="VAR_029903"
FT VARIANT 34
FT /note="M -> K (in CMTX1; localized to the endoplasmic
FT reticulum)"
FT /evidence="ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:12460545"
FT /id="VAR_029904"
FT VARIANT 34
FT /note="M -> T (in CMTX1; functional channel; localized in
FT the Golgi apparatus without reaching the cell membrane;
FT dbSNP:rs1060500998)"
FT /evidence="ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:12460545, ECO:0000269|PubMed:8829637,
FT ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9401007,
FT ECO:0000269|PubMed:9818870"
FT /id="VAR_002030"
FT VARIANT 34
FT /note="M -> V (in CMTX1; localized in the Golgi apparatus
FT but also forming rare small gap junction-like plaques)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9018031, ECO:0000269|PubMed:9361298"
FT /id="VAR_002031"
FT VARIANT 35
FT /note="V -> M (in CMTX1; localized mainly on the cell
FT membrane forming gap junction-like plaques)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9818870,
FT ECO:0000269|Ref.12"
FT /id="VAR_002032"
FT VARIANT 37
FT /note="V -> M (in CMTX1; localized in the Golgi apparatus
FT but also forming rare small gap junction-like plaques)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9856562"
FT /id="VAR_029905"
FT VARIANT 38
FT /note="V -> M (in CMTX1; localized in the Golgi apparatus
FT without reaching the cell membrane; dbSNP:rs879254012)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:7833935, ECO:0000269|PubMed:9361298"
FT /id="VAR_002033"
FT VARIANT 39
FT /note="A -> P (in CMTX1)"
FT /id="VAR_002034"
FT VARIANT 39
FT /note="A -> V (in CMTX1; dbSNP:rs786204095)"
FT /evidence="ECO:0000269|PubMed:10586284"
FT /id="VAR_002035"
FT VARIANT 40
FT /note="A -> T (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12536289"
FT /id="VAR_029906"
FT VARIANT 40
FT /note="A -> V (in CMTX1; localized in the Golgi apparatus
FT without reaching the cell membrane)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002036"
FT VARIANT 41
FT /note="E -> K (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002037"
FT VARIANT 43
FT /note="V -> M (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10586284"
FT /id="VAR_002038"
FT VARIANT 44
FT /note="W -> L (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002039"
FT VARIANT 49
FT /note="S -> P (in CMTX1; dbSNP:rs116840817)"
FT /evidence="ECO:0000269|PubMed:12207932"
FT /id="VAR_029907"
FT VARIANT 49
FT /note="S -> Y (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:8628473,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002040"
FT VARIANT 50
FT /note="S -> P (in CMTX1; dbSNP:rs913934445)"
FT /evidence="ECO:0000269|PubMed:10732813"
FT /id="VAR_002041"
FT VARIANT 53
FT /note="C -> S (in CMTX1; suggests a failure to incorporate
FT the mutant protein in the cell membrane)"
FT /evidence="ECO:0000269|PubMed:8889588,
FT ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9469569"
FT /id="VAR_002042"
FT VARIANT 55
FT /note="T -> A (in CMTX1; dbSNP:rs863224613)"
FT /evidence="ECO:0000269|PubMed:12477701"
FT /id="VAR_029908"
FT VARIANT 55
FT /note="T -> I (in CMTX1; dbSNP:rs104894824)"
FT /evidence="ECO:0000269|PubMed:10220155,
FT ECO:0000269|PubMed:11723288"
FT /id="VAR_008137"
FT VARIANT 55
FT /note="T -> R (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12185164"
FT /id="VAR_029909"
FT VARIANT 56
FT /note="L -> F (in CMTX1; functional channel)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:9361298"
FT /id="VAR_002043"
FT VARIANT 57
FT /note="Q -> H (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:9856562"
FT /id="VAR_029910"
FT VARIANT 58
FT /note="P -> R (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9633821"
FT /id="VAR_002044"
FT VARIANT 59
FT /note="G -> C (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11438991"
FT /id="VAR_002045"
FT VARIANT 59
FT /note="G -> R (in CMTX1; dbSNP:rs1555937077)"
FT /evidence="ECO:0000269|PubMed:10894999"
FT /id="VAR_029911"
FT VARIANT 60
FT /note="C -> F (in CMTX1; moderate)"
FT /evidence="ECO:0000269|PubMed:10586284,
FT ECO:0000269|PubMed:8162049, ECO:0000269|PubMed:9361298,
FT ECO:0000269|PubMed:9452099"
FT /id="VAR_002046"
FT VARIANT 63
FT /note="V -> I (in CMTX1; dbSNP:rs116840818)"
FT /evidence="ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:8162049, ECO:0000269|PubMed:9099841,
FT ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9633821"
FT /id="VAR_002047"
FT VARIANT 64
FT /note="C -> F (in CMTX1; moderate)"
FT /evidence="ECO:0000269|PubMed:11437164"
FT /id="VAR_029912"
FT VARIANT 64
FT /note="C -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9187667,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002048"
FT VARIANT 65
FT /note="Y -> C (in CMTX1; dbSNP:rs104894819)"
FT /evidence="ECO:0000269|PubMed:7477983,
FT ECO:0000269|PubMed:9099841, ECO:0000269|PubMed:9361298"
FT /id="VAR_002049"
FT VARIANT 65
FT /note="Y -> H (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11562788"
FT /id="VAR_012313"
FT VARIANT 66
FT /note="Missing (in CMTX1)"
FT /id="VAR_002050"
FT VARIANT 69
FT /note="F -> L (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10923043,
FT ECO:0000269|PubMed:12477701"
FT /id="VAR_029913"
FT VARIANT 70
FT /note="P -> A (in CMTX1; dbSNP:rs878853697)"
FT /evidence="ECO:0000269|PubMed:10873293"
FT /id="VAR_029914"
FT VARIANT 75
FT /note="R -> P (in CMTX1; localized in the Golgi apparatus
FT without reaching the cell membrane)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002051"
FT VARIANT 75
FT /note="R -> Q (in CMTX1; localized in the Golgi apparatus
FT without reaching the cell membrane; dbSNP:rs863224972)"
FT /evidence="ECO:0000269|PubMed:12402337,
FT ECO:0000269|PubMed:12460545, ECO:0000269|PubMed:8829637,
FT ECO:0000269|PubMed:9272161, ECO:0000269|PubMed:9361298"
FT /id="VAR_002052"
FT VARIANT 75
FT /note="R -> W (in CMTX1; localized in the Golgi apparatus
FT without reaching the cell membrane; dbSNP:rs116840819)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9272161, ECO:0000269|PubMed:9361298"
FT /id="VAR_002053"
FT VARIANT 77
FT /note="W -> S (in CMTX1; dbSNP:rs199570177)"
FT /evidence="ECO:0000269|PubMed:10873293,
FT ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:9361298"
FT /id="VAR_002054"
FT VARIANT 80
FT /note="Q -> R (in CMTX1; dbSNP:rs879254097)"
FT /evidence="ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:10873293, ECO:0000269|PubMed:8737658,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002055"
FT VARIANT 81
FT /note="L -> F (in CMTX1)"
FT /id="VAR_002056"
FT VARIANT 83
FT /note="L -> P (in CMTX1)"
FT /id="VAR_002057"
FT VARIANT 84
FT /note="V -> I (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:9401007"
FT /id="VAR_002058"
FT VARIANT 85
FT /note="S -> C (in CMTX1; mutant have a higher open
FT probability than hemichannels formed of GJB1 wild-type;
FT dbSNP:rs104894823)"
FT /evidence="ECO:0000269|PubMed:11891346,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002059"
FT VARIANT 85
FT /note="S -> F (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002060"
FT VARIANT 86
FT /note="T -> A (in CMTX1; moderate)"
FT /evidence="ECO:0000269|PubMed:9361298,
FT ECO:0000269|PubMed:9452099"
FT /id="VAR_002061"
FT VARIANT 86
FT /note="T -> N (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002062"
FT VARIANT 86
FT /note="T -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002063"
FT VARIANT 87
FT /note="P -> A (in CMTX1; dbSNP:rs587777877)"
FT /evidence="ECO:0000269|PubMed:8990008,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002064"
FT VARIANT 87
FT /note="P -> L (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002065"
FT VARIANT 87
FT /note="P -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9099841,
FT ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9361298"
FT /id="VAR_002066"
FT VARIANT 89
FT /note="L -> P (in CMTX1; dbSNP:rs1555937122)"
FT /evidence="ECO:0000269|PubMed:9099841,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002067"
FT VARIANT 90
FT /note="L -> H (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:9018031, ECO:0000269|PubMed:9361298"
FT /id="VAR_002068"
FT VARIANT 90
FT /note="L -> V (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10737979"
FT /id="VAR_029915"
FT VARIANT 91
FT /note="V -> M (in CMTX1; dbSNP:rs756928158)"
FT /evidence="ECO:0000269|PubMed:11140841,
FT ECO:0000269|PubMed:11571214"
FT /id="VAR_029916"
FT VARIANT 93
FT /note="M -> V (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002069"
FT VARIANT 94
FT /note="H -> D (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11571214"
FT /id="VAR_029917"
FT VARIANT 94
FT /note="H -> Q (in CMTX1; non-functional channel;
FT dbSNP:rs756000896)"
FT /evidence="ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002070"
FT VARIANT 94
FT /note="H -> Y (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002071"
FT VARIANT 95
FT /note="V -> M (in CMTX1; non-functional channel;
FT dbSNP:rs104894821)"
FT /evidence="ECO:0000269|PubMed:10873293,
FT ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:7477983,
FT ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9401007"
FT /id="VAR_002072"
FT VARIANT 100
FT /note="H -> Y (in CMTX1; mild/moderate)"
FT /evidence="ECO:0000269|PubMed:9361298,
FT ECO:0000269|PubMed:9452099"
FT /id="VAR_002073"
FT VARIANT 102
FT /note="E -> G (in CMTX1; mild phenotype; increased
FT sensitivity to acidification-induced closure;
FT dbSNP:rs779696968)"
FT /evidence="ECO:0000269|PubMed:10873293,
FT ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:14627639,
FT ECO:0000269|PubMed:8004109, ECO:0000269|PubMed:8737658,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002074"
FT VARIANT 102
FT /note="Missing (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12707076"
FT /id="VAR_029918"
FT VARIANT 103
FT /note="K -> E (in CMTX1; dbSNP:rs1131691322)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002075"
FT VARIANT 104
FT /note="K -> T (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10586284"
FT /id="VAR_029919"
FT VARIANT 107
FT /note="R -> W (in CMTX1; dbSNP:rs863224973)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:8829637, ECO:0000269|PubMed:9018031,
FT ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9401007,
FT ECO:0000269|PubMed:9818870"
FT /id="VAR_002076"
FT VARIANT 108
FT /note="L -> P (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11835375"
FT /id="VAR_029920"
FT VARIANT 111..116
FT /note="Missing (in CMTX1)"
FT /evidence="ECO:0000269|Ref.12"
FT /id="VAR_002077"
FT VARIANT 120
FT /note="V -> E (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10220155"
FT /id="VAR_008138"
FT VARIANT 120
FT /note="Missing (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12402337"
FT /id="VAR_029921"
FT VARIANT 124
FT /note="K -> E (in CMTX1; dbSNP:rs1555937161)"
FT /evidence="ECO:0000269|PubMed:27234031"
FT /id="VAR_076567"
FT VARIANT 124
FT /note="K -> N (in CMTX1; dbSNP:rs876661119)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002078"
FT VARIANT 125
FT /note="V -> D (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12185164"
FT /id="VAR_029922"
FT VARIANT 126
FT /note="H -> Y (in CMTX1; dbSNP:rs879253995)"
FT /evidence="ECO:0000269|PubMed:11030070"
FT /id="VAR_029923"
FT VARIANT 127
FT /note="I -> M (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9818870"
FT /id="VAR_029924"
FT VARIANT 127
FT /note="I -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:15468313"
FT /id="VAR_029925"
FT VARIANT 128
FT /note="S -> P (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002079"
FT VARIANT 130
FT /note="T -> I (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11571214"
FT /id="VAR_029926"
FT VARIANT 131
FT /note="L -> P (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9818870"
FT /id="VAR_029927"
FT VARIANT 133
FT /note="W -> C (in CMTX1; moderate)"
FT /evidence="ECO:0000269|PubMed:9452099"
FT /id="VAR_002080"
FT VARIANT 133
FT /note="W -> R (in CMTX1; dbSNP:rs104894813)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:7477983,
FT ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9401007"
FT /id="VAR_002081"
FT VARIANT 135
FT /note="Y -> C (in CMTX1)"
FT /id="VAR_002082"
FT VARIANT 136
FT /note="V -> A (in CMTX1 and DSS; found in a DSS patient
FT with severe symptoms also carrying W-359 in the EGR2 gene;
FT may act as a modifier of disease severity;
FT dbSNP:rs104894826)"
FT /evidence="ECO:0000269|PubMed:15241803,
FT ECO:0000269|PubMed:15947997"
FT /id="VAR_021611"
FT VARIANT 138
FT /note="S -> N (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12497641"
FT /id="VAR_029928"
FT VARIANT 139
FT /note="V -> M (in CMTX1; dbSNP:rs104894812)"
FT /evidence="ECO:0000269|PubMed:10586284,
FT ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:12402337,
FT ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:8266101,
FT ECO:0000269|PubMed:9099841, ECO:0000269|PubMed:9272161,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002083"
FT VARIANT 141
FT /note="F -> L (in CMTX1; dbSNP:rs1555937180)"
FT /evidence="ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:9401007"
FT /id="VAR_002084"
FT VARIANT 142
FT /note="R -> E (in CMTX1; requires 2 nucleotide
FT substitutions)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002085"
FT VARIANT 142
FT /note="R -> Q (in CMTX1; dbSNP:rs786204123)"
FT /evidence="ECO:0000269|PubMed:10586284,
FT ECO:0000269|PubMed:10923043, ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:12477701"
FT /id="VAR_029929"
FT VARIANT 142
FT /note="R -> W (in CMTX1; moderate; dbSNP:rs104894810)"
FT /evidence="ECO:0000269|PubMed:10586284,
FT ECO:0000269|PubMed:10732813, ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:10873293, ECO:0000269|PubMed:11437164,
FT ECO:0000269|PubMed:12325071, ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:8004109, ECO:0000269|PubMed:8266101,
FT ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:9018031,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002086"
FT VARIANT 143
FT /note="Missing (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11438991,
FT ECO:0000269|PubMed:8162049, ECO:0000269|PubMed:9361298"
FT /id="VAR_002087"
FT VARIANT 146
FT /note="E -> K (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12402337"
FT /id="VAR_029930"
FT VARIANT 147
FT /note="A -> D (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12402337"
FT /id="VAR_029931"
FT VARIANT 149
FT /note="F -> I (in CMTX1)"
FT /id="VAR_002088"
FT VARIANT 149
FT /note="F -> V (in CMTX1; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:10586284"
FT /id="VAR_029932"
FT VARIANT 151
FT /note="Y -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11438991"
FT /id="VAR_029933"
FT VARIANT 153
FT /note="F -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12185164"
FT /id="VAR_029934"
FT VARIANT 156
FT /note="L -> F (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:9018031, ECO:0000269|PubMed:9361298"
FT /id="VAR_002089"
FT VARIANT 156
FT /note="L -> R (in CMTX1; dbSNP:rs104894818)"
FT /evidence="ECO:0000269|PubMed:7477983,
FT ECO:0000269|PubMed:8266101, ECO:0000269|PubMed:9361298"
FT /id="VAR_002090"
FT VARIANT 157
FT /note="Y -> C (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002091"
FT VARIANT 158
FT /note="P -> A (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9401007,
FT ECO:0000269|PubMed:9818870, ECO:0000269|Ref.12"
FT /id="VAR_002092"
FT VARIANT 158
FT /note="P -> R (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002093"
FT VARIANT 158
FT /note="P -> S (in CMTX1)"
FT /id="VAR_002094"
FT VARIANT 159
FT /note="G -> D (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11571214"
FT /id="VAR_029935"
FT VARIANT 159
FT /note="G -> S (in CMTX1; dbSNP:rs1555937194)"
FT /evidence="ECO:0000269|PubMed:10732813"
FT /id="VAR_002095"
FT VARIANT 160
FT /note="Y -> H (in CMTX1; dbSNP:rs1555937197)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002096"
FT VARIANT 161
FT /note="A -> P (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002097"
FT VARIANT 164
FT /note="R -> Q (in CMTX1; dbSNP:rs1241595912)"
FT /evidence="ECO:0000269|PubMed:10220155,
FT ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:10923043,
FT ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:12497641,
FT ECO:0000269|PubMed:15241803, ECO:0000269|PubMed:9187667,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002098"
FT VARIANT 164
FT /note="R -> W (in CMTX1; moderate; dbSNP:rs139643362)"
FT /evidence="ECO:0000269|PubMed:10873293,
FT ECO:0000269|PubMed:11437164, ECO:0000269|PubMed:11438991,
FT ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:8733054,
FT ECO:0000269|PubMed:8737658, ECO:0000269|PubMed:9187667,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002099"
FT VARIANT 168
FT /note="C -> R (in CMTX1; demyelinating form)"
FT /evidence="ECO:0000269|PubMed:15241803"
FT /id="VAR_021612"
FT VARIANT 168
FT /note="C -> Y (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12325071"
FT /id="VAR_029936"
FT VARIANT 172
FT /note="P -> A (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12497641"
FT /id="VAR_029937"
FT VARIANT 172
FT /note="P -> L (in CMTX1; dbSNP:rs1555937218)"
FT /evidence="ECO:0000269|PubMed:9361298,
FT ECO:0000269|PubMed:9633821, ECO:0000269|PubMed:9856562"
FT /id="VAR_002100"
FT VARIANT 172
FT /note="P -> R (in CMTX1; suggests a failure to incorporate
FT the mutant protein in the cell membrane)"
FT /evidence="ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:9469569"
FT /id="VAR_029938"
FT VARIANT 172
FT /note="P -> S (in CMTX1; dbSNP:rs104894811)"
FT /evidence="ECO:0000269|PubMed:8266101,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002101"
FT VARIANT 173
FT /note="C -> R (in CMTX1)"
FT /id="VAR_002102"
FT VARIANT 175
FT /note="N -> D (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9633821"
FT /id="VAR_002103"
FT VARIANT 177
FT /note="V -> A (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12477701,
FT ECO:0000269|PubMed:9856562"
FT /id="VAR_029939"
FT VARIANT 177
FT /note="V -> E (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10586284"
FT /id="VAR_029940"
FT VARIANT 178
FT /note="D -> Y (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002104"
FT VARIANT 179
FT /note="C -> R (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002105"
FT VARIANT 180
FT /note="F -> L (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002106"
FT VARIANT 180
FT /note="F -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10873293"
FT /id="VAR_029941"
FT VARIANT 181
FT /note="V -> A (in CMTX1; profoundly impaired in their
FT ability to support the earliest stages of regeneration of
FT myelinated fibers)"
FT /evidence="ECO:0000269|PubMed:14627639"
FT /id="VAR_029942"
FT VARIANT 181
FT /note="V -> M (in CMTX1; dbSNP:rs879253909)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002107"
FT VARIANT 182
FT /note="S -> T (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298,
FT ECO:0000269|PubMed:9818870, ECO:0000269|Ref.12"
FT /id="VAR_002108"
FT VARIANT 183
FT /note="R -> C (in CMTX1; dbSNP:rs863224471)"
FT /evidence="ECO:0000269|PubMed:9187667,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002109"
FT VARIANT 183
FT /note="R -> H (in CMTX1; dbSNP:rs1555937233)"
FT /evidence="ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:12477701, ECO:0000269|PubMed:9187667,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002110"
FT VARIANT 183
FT /note="R -> S (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9187667,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002111"
FT VARIANT 184
FT /note="P -> L (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11438991"
FT /id="VAR_029943"
FT VARIANT 184
FT /note="P -> R (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10732813"
FT /id="VAR_002112"
FT VARIANT 185
FT /note="Missing (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002113"
FT VARIANT 186
FT /note="E -> K (in CMTX1; non-functional channel;
FT dbSNP:rs116840821)"
FT /evidence="ECO:0000269|PubMed:10732813,
FT ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:8266101, ECO:0000269|PubMed:9018031,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002114"
FT VARIANT 187
FT /note="K -> E (in CMTX1; dbSNP:rs1555937244)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002115"
FT VARIANT 189
FT /note="V -> G (in CMTX1; dbSNP:rs1064794244)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002116"
FT VARIANT 189
FT /note="V -> I (in CMTX1; dbSNP:rs770116247)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002117"
FT VARIANT 191..193
FT /note="Missing (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002118"
FT VARIANT 191
FT /note="T -> A (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12477701"
FT /id="VAR_029944"
FT VARIANT 192
FT /note="V -> F (in CMTX1; dbSNP:rs771579861)"
FT /evidence="ECO:0000269|PubMed:9818870"
FT /id="VAR_029945"
FT VARIANT 193
FT /note="F -> C (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002119"
FT VARIANT 193
FT /note="F -> L (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:10737979"
FT /id="VAR_029946"
FT VARIANT 194
FT /note="M -> V (in CMTX1; dbSNP:rs587777878)"
FT /evidence="ECO:0000269|PubMed:9272161"
FT /id="VAR_002120"
FT VARIANT 198
FT /note="S -> F (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_002121"
FT VARIANT 199
FT /note="G -> R (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:9099841, ECO:0000269|PubMed:9361298"
FT /id="VAR_002122"
FT VARIANT 201
FT /note="C -> R (in CMTX1; severe)"
FT /evidence="ECO:0000269|PubMed:9361298,
FT ECO:0000269|PubMed:9452025"
FT /id="VAR_002123"
FT VARIANT 201
FT /note="C -> Y (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12477701"
FT /id="VAR_029947"
FT VARIANT 203
FT /note="I -> N (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:9401007"
FT /id="VAR_002124"
FT VARIANT 204
FT /note="L -> F (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9633821"
FT /id="VAR_002125"
FT VARIANT 204
FT /note="L -> V (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:9361298"
FT /id="VAR_029948"
FT VARIANT 205
FT /note="N -> I (in CMTX1; localized to the endoplasmic
FT reticulum)"
FT /evidence="ECO:0000269|PubMed:11835375,
FT ECO:0000269|PubMed:12460545"
FT /id="VAR_029949"
FT VARIANT 205
FT /note="N -> S (in CMTX1; mild; dbSNP:rs104894822)"
FT /evidence="ECO:0000269|PubMed:10071100,
FT ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:12497641,
FT ECO:0000269|PubMed:9361298, ECO:0000269|PubMed:9401007,
FT ECO:0000269|PubMed:9452099"
FT /id="VAR_002126"
FT VARIANT 208
FT /note="E -> G (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11180613"
FT /id="VAR_029950"
FT VARIANT 208
FT /note="E -> K (in CMTX1; non-detectable levels of
FT hemichannel activation and non-detectable levels of
FT electrical coupling; dbSNP:rs1555937270)"
FT /evidence="ECO:0000269|PubMed:10234007,
FT ECO:0000269|PubMed:10737979, ECO:0000269|PubMed:8162049,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002127"
FT VARIANT 209
FT /note="Missing (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:12402337"
FT /id="VAR_029951"
FT VARIANT 211
FT /note="Y -> H (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11140841"
FT /id="VAR_029952"
FT VARIANT 213..214
FT /note="II -> L (in CMTX1)"
FT /evidence="ECO:0000269|PubMed:11571214,
FT ECO:0000269|PubMed:9401007"
FT /id="VAR_002128"
FT VARIANT 213
FT /note="I -> V (in CMTX1; localized mainly on the cell
FT membrane forming gap junction-like plaques;
FT dbSNP:rs753503984)"
FT /evidence="ECO:0000269|PubMed:12460545"
FT /id="VAR_029953"
FT VARIANT 215
FT /note="R -> Q (in CMTX1; non-detectable levels of
FT hemichannel activation and non-detectable levels of
FT electrical coupling; dbSNP:rs864622215)"
FT /evidence="ECO:0000269|PubMed:10234007"
FT /id="VAR_029954"
FT VARIANT 215
FT /note="R -> W (in CMTX1; mild/moderate; non-functional
FT channel; dbSNP:rs879254099)"
FT /evidence="ECO:0000269|PubMed:10234007,
FT ECO:0000269|PubMed:10732813, ECO:0000269|PubMed:11437164,
FT ECO:0000269|PubMed:11571214, ECO:0000269|PubMed:11835375,
FT ECO:0000269|PubMed:8162049, ECO:0000269|PubMed:8698335,
FT ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9361298"
FT /id="VAR_002129"
FT VARIANT 219
FT /note="R -> C (in CMTX1; localized mainly on the cell
FT membrane forming gap junction-like plaques;
FT dbSNP:rs144381053)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002130"
FT VARIANT 219
FT /note="R -> H (in CMTX1; localized mainly on the cell
FT membrane forming gap junction-like plaques;
FT dbSNP:rs199834862)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002131"
FT VARIANT 220
FT /note="R -> G (in CMTX1; localized mainly on the cell
FT membrane forming gap junction-like plaques;
FT dbSNP:rs104894814)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002132"
FT VARIANT 230
FT /note="R -> C (in CMTX1; localized mainly on the cell
FT membrane forming gap junction-like plaques;
FT dbSNP:rs587781246)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002133"
FT VARIANT 230
FT /note="R -> L (in CMTX1; localized mainly on the cell
FT membrane forming gap junction-like plaques;
FT dbSNP:rs780335726)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002134"
FT VARIANT 235
FT /note="F -> C (in CMTX1; the mutation causes abnormal
FT hemichannel opening with excessive permeability of the
FT plasma membrane and decreased cell survival;
FT dbSNP:rs104894825)"
FT /evidence="ECO:0000269|PubMed:15852376,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002135"
FT VARIANT 238
FT /note="R -> H (in CMTX1; localized mainly on the cell
FT membrane forming gap junction-like plaques;
FT dbSNP:rs776206757)"
FT /evidence="ECO:0000269|PubMed:10234007,
FT ECO:0000269|PubMed:12460545, ECO:0000269|PubMed:8990008,
FT ECO:0000269|PubMed:9361298"
FT /id="VAR_002136"
FT VARIANT 239
FT /note="L -> I (in CMTX1; localized mainly on the cell
FT membrane forming gap junction-like plaques)"
FT /evidence="ECO:0000269|PubMed:12460545,
FT ECO:0000269|PubMed:9818870"
FT /id="VAR_029955"
FT VARIANT 264
FT /note="R -> C (in CMTX1; dbSNP:rs587777879)"
FT /evidence="ECO:0000269|PubMed:12402337"
FT /id="VAR_029956"
FT VARIANT 280
FT /note="C -> G (in CMTX1; forms channels normally)"
FT /evidence="ECO:0000269|PubMed:10234007"
FT /id="VAR_029957"
FT CONFLICT 16..17
FT /note="HS -> IL (in Ref. 6; AAA75086)"
FT /evidence="ECO:0000305"
FT TURN 6..9
FT /evidence="ECO:0007829|PDB:5KK9"
FT HELIX 10..12
FT /evidence="ECO:0007829|PDB:5KK9"
SQ SEQUENCE 283 AA; 32025 MW; 8222C4811D12451E CRC64;
MNWTGLYTLL SGVNRHSTAI GRVWLSVIFI FRIMVLVVAA ESVWGDEKSS FICNTLQPGC
NSVCYDQFFP ISHVRLWSLQ LILVSTPALL VAMHVAHQQH IEKKMLRLEG HGDPLHLEEV
KRHKVHISGT LWWTYVISVV FRLLFEAVFM YVFYLLYPGY AMVRLVKCDV YPCPNTVDCF
VSRPTEKTVF TVFMLAASGI CIILNVAEVV YLIIRACARR AQRRSNPPSR KGSGFGHRLS
PEYKQNEINK LLSEQDGSLK DILRRSPGTG AGLAEKSDRC SAC
