PMP22_HUMAN
ID PMP22_HUMAN Reviewed; 160 AA.
AC Q01453; Q8WV01;
DT 01-APR-1993, integrated into UniProtKB/Swiss-Prot.
DT 01-APR-1993, sequence version 1.
DT 03-AUG-2022, entry version 215.
DE RecName: Full=Peripheral myelin protein 22;
DE Short=PMP-22;
DE AltName: Full=Growth arrest-specific protein 3;
DE Short=GAS-3;
GN Name=PMP22; Synonyms=GAS3;
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].
RX PubMed=1303228; DOI=10.1038/ng0692-159;
RA Patel P.I., Roa B.B., Welcher A.A., Schoener-Scott R., Trask B., Pentao L.,
RA Snipes G.J., Garcia C.A., Francke U., Shooter E.M., Lupski J.R., Suter U.;
RT "The gene for the peripheral myelin protein PMP-22 is a candidate for
RT Charcot-Marie-Tooth disease type 1A.";
RL Nat. Genet. 1:159-165(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Spinal cord;
RX PubMed=1497668; DOI=10.1016/0006-291x(92)90820-b;
RA Hayasaka K., Himoro M., Nanao K., Sato W., Miura M., Uyemura K.,
RA Takahashi E., Takada G.;
RT "Isolation and sequence determination of cDNA encoding PMP-22 (PAS-
RT II/SR13/Gas-3) of human peripheral myelin.";
RL Biochem. Biophys. Res. Commun. 186:827-831(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT CMT1A PRO-16.
RX PubMed=1303281; DOI=10.1038/ng1292-288;
RA Valentijn L.J., Baas F., Wolterman R.A., Hoogendijk J.E.,
RA van den Bosch N.H.A., Zorn I., Gabreeels-Festen A.A.W.M., de Visser M.,
RA Bolhuis P.A.;
RT "Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-
RT Tooth disease type 1A.";
RL Nat. Genet. 2:288-291(1992).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=8482547; DOI=10.1016/0378-1119(93)90384-f;
RA Edomi P., Martinotti A., Colombo M.P., Schneider C.;
RT "Sequence of human GAS3/PMP22 full-length cDNA.";
RL Gene 126:289-290(1993).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Kidney;
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 [MRNA] OF 61-160.
RC TISSUE=Fetal fibroblast;
RX PubMed=1303210; DOI=10.1093/hmg/1.5.331;
RA Martinotti A., Cariani C.T., Melani C., Sozzi G., Spurr N.K.,
RA Pierotti M.A., Colombo M.P.;
RT "Isolation and mapping to 17p12-13 of the human homologous of the murine
RT growth arrest specific Gas-3 gene.";
RL Hum. Mol. Genet. 1:331-334(1992).
RN [7]
RP REVIEW ON CMT1A VARIANTS.
RX PubMed=7762451; DOI=10.1007/978-1-4757-9062-7_3;
RA Roa B.B., Lupski J.R.;
RT "Molecular genetics of Charcot-Marie-Tooth neuropathy.";
RL Adv. Hum. Genet. 22:117-152(1994).
RN [8]
RP REVIEW ON CMT1A VARIANTS.
RX PubMed=7518101; DOI=10.1016/0168-9525(94)90214-3;
RA Patel P.I., Lupski J.R.;
RT "Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited
RT disease.";
RL Trends Genet. 10:128-133(1994).
RN [9]
RP REVIEW ON CMT1A AND DSS 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 [10]
RP STRUCTURE BY NMR OF WILD TYPE AND MUTANT PRO-16, SUBCELLULAR LOCATION, AND
RP TOPOLOGY.
RX PubMed=21827951; DOI=10.1016/j.str.2011.05.009;
RA Sakakura M., Hadziselimovic A., Wang Z., Schey K.L., Sanders C.R.;
RT "Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth
RT disease.";
RL Structure 19:1160-1169(2011).
RN [11]
RP VARIANTS DSS LYS-69 AND LEU-72, AND VARIANTS CMT1A CYS-79 AND MET-118.
RX PubMed=8252046; DOI=10.1038/ng1093-189;
RA Roa B.B., Garcia C.A., Pentao L., Killian J.M., Trask B.J., Suter U.,
RA Snipes G.J., Ortiz-Lopez R., Shooter E.M., Patel P.I., Lupski J.R.;
RT "Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth
RT disease type 1A.";
RL Nat. Genet. 5:189-194(1993).
RN [12]
RP VARIANTS DSS LYS-69 AND LEU-72.
RX PubMed=8275092; DOI=10.1038/ng1193-269;
RA Roa B.B., Dyck P.J., Marks H.G., Chance P.F., Lupski J.R.;
RT "Dejerine-Sottas syndrome associated with point mutation in the peripheral
RT myelin protein 22 (PMP22) gene.";
RL Nat. Genet. 5:269-273(1993).
RN [13]
RP VARIANT CMT1A CYS-79.
RX PubMed=8510709; DOI=10.1056/nejm199307083290205;
RA Roa B.B., Garcia C.A., Suter U., Kulpa D.A., Wise C.A., Mueller J.,
RA Welcher A.A., Snipes G.J., Shooter E.M., Patel P.I., Lupski J.R.;
RT "Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point
RT mutation in the PMP22 gene.";
RL N. Engl. J. Med. 329:96-101(1993).
RN [14]
RP VARIANT CMT1A ARG-105.
RX PubMed=8615087; DOI=10.1007/bf00318579;
RA Gabreeels-Festen A.A.W.M., Bolhuis P.A., Hoogendijk J.E., Valentijn L.J.,
RA Eshuis E.J., Gabreeels F.J.M.;
RT "Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p
RT duplication versus PMP22 point mutations.";
RL Acta Neuropathol. 90:645-649(1995).
RN [15]
RP VARIANT DSS GLN-12.
RX PubMed=7728152; DOI=10.1002/humu.1380050110;
RA Valentijn L.J., Ouvrier R.A., van den Bosch N.H.A., Bolhuis P.A., Baas F.,
RA Nicholson G.A.;
RT "Dejerine-Sottas neuropathy is associated with a de novo PMP22 mutation.";
RL Hum. Mutat. 5:76-80(1995).
RN [16]
RP VARIANT DSS LEU-72.
RX PubMed=7675244; DOI=10.1212/wnl.45.9.1766;
RA Ionasescu V.V., Ionasescu R., Searby C.C., Neahring R.;
RT "Dejerine-Sottas disease with de novo dominant point mutation of the PMP22
RT gene.";
RL Neurology 45:1766-1767(1995).
RN [17]
RP VARIANT CMT1A ARG-93.
RX PubMed=8777804;
RA Ohnishi A., Yoshimura T., Kanehisa Y., Fukushima Y.;
RT "A case of hereditary motor and sensory neuropathy type I with a new type
RT of peripheral myelin protein (PMP)-22 mutation.";
RL Rinsho Shinkeigaku 35:788-792(1995).
RN [18]
RP VARIANT CMT1A ARG-147.
RX PubMed=8655153; DOI=10.1007/bf02281883;
RA Navon R., Seifried B., Gal-On N.S., Sadeh M.;
RT "A new point mutation affecting the fourth transmembrane domain of PMP22
RT results in severe de novo Charcot-Marie-Tooth disease.";
RL Hum. Genet. 97:685-687(1996).
RN [19]
RP VARIANT DSS LEU-72.
RX PubMed=9004143; DOI=10.1136/jmg.33.12.1048;
RA Ionasescu V.V., Searby C., Greenberg S.A.;
RT "Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and
RT peripheral facial nerve weakness: de novo dominant point mutation of the
RT PMP22 gene.";
RL J. Med. Genet. 33:1048-1049(1996).
RN [20]
RP VARIANTS DSS TRP-72; ILE-76 AND PRO-80.
RX PubMed=9055797; DOI=10.1093/brain/120.1.47;
RA Tyson J., Ellis D., Fairbrother U., King R.H., Muntoni F., Jacobs J.,
RA Malcolm S., Harding A.E., Thomas P.K.;
RT "Hereditary demyelinating neuropathy of infancy. A genetically complex
RT syndrome.";
RL Brain 120:47-63(1997).
RN [21]
RP VARIANT DSS ARG-100.
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 [22]
RP VARIANT DSS ASP-150.
RX PubMed=8995589;
RX DOI=10.1002/(sici)1097-4598(199701)20:1<97::aid-mus13>3.0.co;2-z;
RA Ionasescu V.V., Searby C.C., Ionasescu R., Chatkupt S., Patel N.,
RA Koenigsberger R.;
RT "Dejerine-Sottas neuropathy in mother and son with same point mutation of
RT PMP22 gene.";
RL Muscle Nerve 20:97-99(1997).
RN [23]
RP VARIANT MET-118.
RX PubMed=8988161; DOI=10.1038/ng0197-13;
RA Nelis E., Holmberg B., Adolfsson R., Holmgren G., van Broeckhoven C.;
RT "PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?";
RL Nat. Genet. 15:13-14(1997).
RN [24]
RP VARIANT CMT1A VAL-107.
RX PubMed=9040744; DOI=10.1212/wnl.48.2.489;
RA Marrosu M.G., Vaccargiu S., Marrosu G., Vannelli A., Cianchetti C.,
RA Muntoni F.;
RT "A novel point mutation in the peripheral myelin protein 22 (PMP22) gene
RT associated with Charcot-Marie-Tooth disease type 1A.";
RL Neurology 48:489-493(1997).
RN [25]
RP VARIANTS DSS LEU-72 AND GLU-100.
RX PubMed=9585367; DOI=10.1002/ana.410430521;
RA Marques W. Jr., Thomas P.K., Sweeney M.G., Carr L., Wood N.W.;
RT "Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair
RT substitution and a possible 'hot spot' on Ser72.";
RL Ann. Neurol. 43:680-683(1998).
RN [26]
RP VARIANT DSS CYS-150.
RX PubMed=9544841; DOI=10.1007/s004390050694;
RA Ikegami T., Ikeda H., Aoyama M., Matsuki T., Imota T., Fukuuchi Y.,
RA Amano T., Toyoshima I., Ishihara Y., Endoh H., Hayasaka K.;
RT "Novel mutations of the peripheral myelin protein 22 gene in two pedigrees
RT with Dejerine-Sottas disease.";
RL Hum. Genet. 102:294-298(1998).
RN [27]
RP VARIANT DSS PRO-79.
RX PubMed=9452053; DOI=10.1002/humu.1380110132;
RA Bort S., Sevilla T., Garcia-Planells J., Blesa D., Paricio N.,
RA Vilchez J.J., Prieto F., Palau F.;
RT "Dejerine-Sottas neuropathy associated with de novo S79P mutation of the
RT peripheral myelin protein 22 (PMP22) gene.";
RL Hum. Mutat. Suppl. 1:S95-S98(1998).
RN [28]
RP VARIANT MET-118.
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 [29]
RP VARIANT DSS PHE-84 DEL.
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 [30]
RP VARIANT HNPP MET-30.
RX PubMed=9748013; DOI=10.1212/wnl.51.3.702;
RA Sahenk Z., Chen L., Freimer M.;
RT "A novel PMP22 point mutation causing HNPP phenotype: studies on nerve
RT xenografts.";
RL Neurology 51:702-707(1998).
RN [31]
RP VARIANT CMT1E PRO-67.
RX PubMed=10330345; DOI=10.1086/302420;
RA Kovach M.J., Lin J.-P., Boyadjiev S., Campbell K., Mazzeo L., Herman K.,
RA Rimer L.A., Frank W., Llewellyn B., Wang Jabs E., Gelber D., Kimonis V.E.;
RT "A unique point mutation in the PMP22 gene is associated with Charcot-
RT Marie-Tooth disease and deafness.";
RL Am. J. Hum. Genet. 64:1580-1593(1999).
RN [32]
RP VARIANT DSS TRP-157.
RC TISSUE=Peripheral blood;
RX PubMed=10211478;
RX DOI=10.1002/1531-8249(199904)45:4<518::aid-ana15>3.0.co;2-u;
RA Parman Y., Plante-Bordeneuve V., Guiochon-Mantel A., Eraksoy M., Said G.;
RT "Recessive inheritance of a new point mutation of the PMP22 gene in
RT Dejerine-Sottas disease.";
RL Ann. Neurol. 45:518-522(1999).
RN [33]
RP VARIANT CMT1A VAL-37.
RX PubMed=10489052; DOI=10.1212/wnl.53.4.846;
RA Fabrizi G.M., Cavallaro T., Taioli F., Orrico D., Morbin M., Simonati A.,
RA Rizzuto N.;
RT "Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point
RT mutation of peripheral myelin protein-22.";
RL Neurology 53:846-851(1999).
RN [34]
RP VARIANT DSS ARG-149.
RX PubMed=10663978; DOI=10.1007/pl00007446;
RA Ohnishi A., Yamamoto T., Izawa K., Yamamori S., Takahashi K., Mega H.,
RA Jinnai K.;
RT "Dejerine-Sottas disease with a novel de novo dominant mutation, Ser 149
RT Arg, of the peripheral myelin protein 22.";
RL Acta Neuropathol. 99:327-330(2000).
RN [35]
RP VARIANT GLY-157.
RC TISSUE=Peripheral blood leukocyte;
RX PubMed=10632107;
RX DOI=10.1002/1531-8249(200001)47:1<101::aid-ana16>3.0.co;2-2;
RA Numakura C., Lin C., Oka N., Akiguchi I., Hayasaka K.;
RT "Hemizygous mutation of the peripheral myelin protein 22 gene associated
RT with Charcot-Marie-Tooth disease type 1.";
RL Ann. Neurol. 47:101-103(2000).
RN [36]
RP VARIANT CMT1A LEU-72.
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 [37]
RP VARIANTS CMT1A 25-VAL-SER-26 DEL AND ARG-147, AND VARIANT MET-118.
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 [38]
RP VARIANTS DSS LEU-72 AND ARG-109.
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 [39]
RP INVOLVEMENT IN IDP.
RX PubMed=12439896; DOI=10.1002/ajmg.10725;
RA Korn-Lubetzki I., Argov Z., Raas-Rothschild A., Wirguin I., Steiner I.;
RT "Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12
RT deletion.";
RL Am. J. Med. Genet. 113:275-278(2002).
RN [40]
RP VARIANT CMT1E ARG-28, AND VARIANT CMT1A/DSS PRO-71.
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 [41]
RP VARIANT CMT1A LEU-72.
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 [42]
RP VARIANTS DSS PRO-16; ARG-80 AND ARG-105.
RX PubMed=12090401; DOI=10.1046/j.1469-7580.2002.00043.x;
RA Gabreeels-Festen A.A.W.M.;
RT "Dejerine-Sottas syndrome grown to maturity: overview of genetic and
RT morphological heterogeneity and follow-up of 25 patients.";
RL J. Anat. 200:341-356(2002).
RN [43]
RP VARIANT CMT1A PHE-65.
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 [44]
RP VARIANT CMT1E 115-ALA--THR-118 DEL.
RX PubMed=12578939; DOI=10.1212/01.wnl.0000044048.27971.fc;
RA Sambuughin N., de Bantel A., McWilliams S., Sivakumar K.;
RT "Deafness and CMT disease associated with a novel four amino acid deletion
RT in the PMP22 gene.";
RL Neurology 60:506-508(2003).
RN [45]
RP VARIANT HNPP THR-67.
RX PubMed=12796555; DOI=10.1212/01.wnl.0000066049.13848.f2;
RA Nodera H., Nishimura M., Logigian E.L., Herrmann D.N., Kaji R.;
RT "HNPP due to a novel missense mutation of the PMP22 gene.";
RL Neurology 60:1863-1864(2003).
RN [46]
RP VARIANT HNPP/CMT1A PHE-22.
RX PubMed=15205993; DOI=10.1007/s10048-004-0184-1;
RA Kleopa K.A., Georgiou D.-M., Nicolaou P., Koutsou P., Papathanasiou E.,
RA Kyriakides T., Christodoulou K.;
RT "A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy
RT with liability to pressure palsies and CMT1A phenotypes.";
RL Neurogenetics 5:171-175(2004).
RN [47]
RP VARIANT CMT1E ARG-23.
RX PubMed=15099592; DOI=10.1016/j.nmd.2004.02.009;
RA Joo I.S., Ki C.S., Joo S.Y., Huh K., Kim J.W.;
RT "A novel point mutation in PMP22 gene associated with a familial case of
RT Charcot-Marie-Tooth disease type 1A with sensorineural deafness.";
RL Neuromuscul. Disord. 14:325-328(2004).
RN [48]
RP VARIANT CNT1A MET-118.
RX PubMed=16437560; DOI=10.1002/ana.20777;
RA Shy M.E., Scavina M.T., Clark A., Krajewski K.M., Li J., Kamholz J.,
RA Kolodny E., Szigeti K., Fischer R.A., Saifi G.M., Scherer S.S.,
RA Lupski J.R.;
RT "T118M PMP22 mutation causes partial loss of function and HNPP-like
RT neuropathy.";
RL Ann. Neurol. 59:358-364(2006).
CC -!- FUNCTION: Might be involved in growth regulation, and in myelinization
CC in the peripheral nervous system.
CC -!- INTERACTION:
CC Q01453; O95236-2: APOL3; NbExp=3; IntAct=EBI-2845982, EBI-11976321;
CC Q01453; P41181: AQP2; NbExp=3; IntAct=EBI-2845982, EBI-12701138;
CC Q01453; Q3SXY8: ARL13B; NbExp=3; IntAct=EBI-2845982, EBI-11343438;
CC Q01453; P07307-3: ASGR2; NbExp=3; IntAct=EBI-2845982, EBI-12808270;
CC Q01453; O75787: ATP6AP2; NbExp=3; IntAct=EBI-2845982, EBI-2512037;
CC Q01453; Q6UWD8: C16orf54; NbExp=3; IntAct=EBI-2845982, EBI-18041102;
CC Q01453; P09693: CD3G; NbExp=3; IntAct=EBI-2845982, EBI-3862428;
CC Q01453; P19397: CD53; NbExp=3; IntAct=EBI-2845982, EBI-6657396;
CC Q01453; Q07108: CD69; NbExp=3; IntAct=EBI-2845982, EBI-2836595;
CC Q01453; P40198: CEACAM3; NbExp=3; IntAct=EBI-2845982, EBI-12851752;
CC Q01453; P56856: CLDN18; NbExp=3; IntAct=EBI-2845982, EBI-16354902;
CC Q01453; O00501: CLDN5; NbExp=3; IntAct=EBI-2845982, EBI-18400628;
CC Q01453; P56747: CLDN6; NbExp=3; IntAct=EBI-2845982, EBI-12955011;
CC Q01453; Q2HXU8-2: CLEC12B; NbExp=3; IntAct=EBI-2845982, EBI-12811991;
CC Q01453; Q86T13: CLEC14A; NbExp=3; IntAct=EBI-2845982, EBI-17710733;
CC Q01453; O43889-2: CREB3; NbExp=3; IntAct=EBI-2845982, EBI-625022;
CC Q01453; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-2845982, EBI-6942903;
CC Q01453; Q15125: EBP; NbExp=3; IntAct=EBI-2845982, EBI-3915253;
CC Q01453; Q92838: EDA; NbExp=3; IntAct=EBI-2845982, EBI-529425;
CC Q01453; P54849: EMP1; NbExp=3; IntAct=EBI-2845982, EBI-4319440;
CC Q01453; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-2845982, EBI-781551;
CC Q01453; P60508: ERVFRD-1; NbExp=3; IntAct=EBI-2845982, EBI-17973325;
CC Q01453; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-2845982, EBI-18304435;
CC Q01453; P55899: FCGRT; NbExp=3; IntAct=EBI-2845982, EBI-2833934;
CC Q01453; O15552: FFAR2; NbExp=3; IntAct=EBI-2845982, EBI-2833872;
CC Q01453; P48165: GJA8; NbExp=3; IntAct=EBI-2845982, EBI-17458373;
CC Q01453; O15529: GPR42; NbExp=3; IntAct=EBI-2845982, EBI-18076404;
CC Q01453; Q9BZJ8: GPR61; NbExp=3; IntAct=EBI-2845982, EBI-12808020;
CC Q01453; Q9NZD1: GPRC5D; NbExp=3; IntAct=EBI-2845982, EBI-13067820;
CC Q01453; P38484: IFNGR2; NbExp=3; IntAct=EBI-2845982, EBI-3905457;
CC Q01453; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-2845982, EBI-1055254;
CC Q01453; P48051: KCNJ6; NbExp=3; IntAct=EBI-2845982, EBI-12017638;
CC Q01453; O15554: KCNN4; NbExp=3; IntAct=EBI-2845982, EBI-2924473;
CC Q01453; P26715: KLRC1; NbExp=6; IntAct=EBI-2845982, EBI-9018187;
CC Q01453; Q9GZW8: MS4A7; NbExp=3; IntAct=EBI-2845982, EBI-721391;
CC Q01453; P35372-10: OPRM1; NbExp=3; IntAct=EBI-2845982, EBI-12807478;
CC Q01453; Q13113: PDZK1IP1; NbExp=3; IntAct=EBI-2845982, EBI-716063;
CC Q01453; O15173: PGRMC2; NbExp=3; IntAct=EBI-2845982, EBI-1050125;
CC Q01453; Q9H6H4: REEP4; NbExp=3; IntAct=EBI-2845982, EBI-7545592;
CC Q01453; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-2845982, EBI-17247926;
CC Q01453; P31431: SDC4; NbExp=3; IntAct=EBI-2845982, EBI-3913237;
CC Q01453; Q16585: SGCB; NbExp=3; IntAct=EBI-2845982, EBI-5663627;
CC Q01453; Q3SXP7: SHISAL1; NbExp=3; IntAct=EBI-2845982, EBI-18037857;
CC Q01453; P54219-3: SLC18A1; NbExp=3; IntAct=EBI-2845982, EBI-17595455;
CC Q01453; Q9H2H9: SLC38A1; NbExp=3; IntAct=EBI-2845982, EBI-9978441;
CC Q01453; Q9BZL3: SMIM3; NbExp=9; IntAct=EBI-2845982, EBI-741850;
CC Q01453; Q9HBV2: SPACA1; NbExp=3; IntAct=EBI-2845982, EBI-17498703;
CC Q01453; P27105: STOM; NbExp=3; IntAct=EBI-2845982, EBI-1211440;
CC Q01453; Q8N9I0: SYT2; NbExp=3; IntAct=EBI-2845982, EBI-8032987;
CC Q01453; Q96MV1: TLCD4; NbExp=3; IntAct=EBI-2845982, EBI-12947623;
CC Q01453; Q96CE8: TM4SF18; NbExp=3; IntAct=EBI-2845982, EBI-13351685;
CC Q01453; Q96DZ7: TM4SF19; NbExp=3; IntAct=EBI-2845982, EBI-6448756;
CC Q01453; Q8IV31: TMEM139; NbExp=3; IntAct=EBI-2845982, EBI-7238458;
CC Q01453; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-2845982, EBI-8638294;
CC Q01453; Q3MIR4: TMEM30B; NbExp=3; IntAct=EBI-2845982, EBI-9527107;
CC Q01453; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-2845982, EBI-11742770;
CC Q01453; Q9H3N1: TMX1; NbExp=3; IntAct=EBI-2845982, EBI-1051115;
CC Q01453; O95859: TSPAN12; NbExp=3; IntAct=EBI-2845982, EBI-2466403;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21827951};
CC Multi-pass membrane protein {ECO:0000269|PubMed:21827951}.
CC -!- DISEASE: Charcot-Marie-Tooth disease 1A (CMT1A) [MIM:118220]: A
CC dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder
CC of the peripheral nervous system, characterized by progressive weakness
CC and 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 (designated CMT1 when they are dominantly inherited) and primary
CC peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are
CC characterized by severely reduced nerve conduction velocities (less
CC than 38 m/sec), segmental demyelination and remyelination with onion
CC bulb formations on nerve biopsy, slowly progressive distal muscle
CC atrophy and weakness, absent deep tendon reflexes, and hollow feet.
CC {ECO:0000269|PubMed:10489052, ECO:0000269|PubMed:10737979,
CC ECO:0000269|PubMed:11140841, ECO:0000269|PubMed:11835375,
CC ECO:0000269|PubMed:12402337, ECO:0000269|PubMed:12497641,
CC ECO:0000269|PubMed:1303281, ECO:0000269|PubMed:15205993,
CC ECO:0000269|PubMed:8252046, ECO:0000269|PubMed:8510709,
CC ECO:0000269|PubMed:8615087, ECO:0000269|PubMed:8655153,
CC ECO:0000269|PubMed:8777804, ECO:0000269|PubMed:9040744}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC 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:10211478,
CC ECO:0000269|PubMed:10663978, ECO:0000269|PubMed:11438991,
CC ECO:0000269|PubMed:12090401, ECO:0000269|PubMed:7675244,
CC ECO:0000269|PubMed:7728152, ECO:0000269|PubMed:8252046,
CC ECO:0000269|PubMed:8275092, ECO:0000269|PubMed:8995589,
CC ECO:0000269|PubMed:9004143, ECO:0000269|PubMed:9055797,
CC ECO:0000269|PubMed:9187667, ECO:0000269|PubMed:9452053,
CC ECO:0000269|PubMed:9544841, ECO:0000269|PubMed:9585367,
CC ECO:0000269|PubMed:9633821}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Hereditary neuropathy with liability to pressure palsies
CC (HNPP) [MIM:162500]: A neurologic disorder characterized by transient
CC episodes of decreased perception or peripheral nerve palsies after
CC slight traction, compression or minor traumas.
CC {ECO:0000269|PubMed:12796555, ECO:0000269|PubMed:15205993,
CC ECO:0000269|PubMed:9748013}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Charcot-Marie-Tooth disease 1E (CMT1E) [MIM:118300]: An
CC autosomal dominant form of Charcot-Marie-Tooth disease characterized by
CC the association of sensorineural hearing loss with peripheral
CC demyelinating neuropathy. {ECO:0000269|PubMed:10330345,
CC ECO:0000269|PubMed:11835375, ECO:0000269|PubMed:12578939,
CC ECO:0000269|PubMed:15099592}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Inflammatory demyelinating polyneuropathy (IDP) [MIM:139393]:
CC Putative autoimmune disorder presenting in an acute (AIDP) or chronic
CC form (CIDP). The acute form is also known as Guillain-Barre syndrome.
CC {ECO:0000269|PubMed:12439896}. Note=The disease may be caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db;
CC URL="https://uantwerpen.vib.be/CMTMutations";
CC ---------------------------------------------------------------------------
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DR EMBL; M94048; AAA36457.1; -; mRNA.
DR EMBL; D11428; BAA01995.1; -; mRNA.
DR EMBL; S61788; AAB26811.1; -; mRNA.
DR EMBL; L03203; AAA58495.1; -; mRNA.
DR EMBL; BC019040; AAH19040.2; -; mRNA.
DR EMBL; X65968; CAA46781.1; -; mRNA.
DR CCDS; CCDS11168.1; -.
DR PIR; JN0503; JN0503.
DR RefSeq; NP_000295.1; NM_000304.3.
DR RefSeq; NP_001268384.1; NM_001281455.1.
DR RefSeq; NP_001268385.1; NM_001281456.1.
DR RefSeq; NP_696996.1; NM_153321.2.
DR RefSeq; NP_696997.1; NM_153322.2.
DR AlphaFoldDB; Q01453; -.
DR SMR; Q01453; -.
DR BioGRID; 111389; 64.
DR ELM; Q01453; -.
DR IntAct; Q01453; 61.
DR STRING; 9606.ENSP00000484631; -.
DR ChEMBL; CHEMBL1293298; -.
DR TCDB; 1.H.1.2.2; the claudin tight junction (claudin1) family.
DR GlyGen; Q01453; 1 site.
DR iPTMnet; Q01453; -.
DR PhosphoSitePlus; Q01453; -.
DR SwissPalm; Q01453; -.
DR BioMuta; PMP22; -.
DR DMDM; 266803; -.
DR MassIVE; Q01453; -.
DR PaxDb; Q01453; -.
DR PeptideAtlas; Q01453; -.
DR PRIDE; Q01453; -.
DR Antibodypedia; 13113; 400 antibodies from 37 providers.
DR DNASU; 5376; -.
DR Ensembl; ENST00000312280.9; ENSP00000308937.3; ENSG00000109099.16.
DR Ensembl; ENST00000612492.5; ENSP00000484631.1; ENSG00000109099.16.
DR Ensembl; ENST00000674651.1; ENSP00000501727.1; ENSG00000109099.16.
DR Ensembl; ENST00000674673.1; ENSP00000501804.1; ENSG00000109099.16.
DR Ensembl; ENST00000674868.1; ENSP00000502835.1; ENSG00000109099.16.
DR Ensembl; ENST00000675350.1; ENSP00000501557.1; ENSG00000109099.16.
DR Ensembl; ENST00000675808.1; ENSP00000502310.1; ENSG00000109099.16.
DR Ensembl; ENST00000675819.1; ENSP00000502018.1; ENSG00000109099.16.
DR Ensembl; ENST00000675950.1; ENSP00000501546.1; ENSG00000109099.16.
DR Ensembl; ENST00000676221.1; ENSP00000502601.1; ENSG00000109099.16.
DR GeneID; 5376; -.
DR KEGG; hsa:5376; -.
DR MANE-Select; ENST00000312280.9; ENSP00000308937.3; NM_000304.4; NP_000295.1.
DR CTD; 5376; -.
DR DisGeNET; 5376; -.
DR GeneCards; PMP22; -.
DR GeneReviews; PMP22; -.
DR HGNC; HGNC:9118; PMP22.
DR HPA; ENSG00000109099; Low tissue specificity.
DR MalaCards; PMP22; -.
DR MIM; 118220; phenotype.
DR MIM; 118300; phenotype.
DR MIM; 139393; phenotype.
DR MIM; 145900; phenotype.
DR MIM; 162500; phenotype.
DR MIM; 601097; gene.
DR neXtProt; NX_Q01453; -.
DR OpenTargets; ENSG00000109099; -.
DR Orphanet; 98916; Acute inflammatory demyelinating polyradiculoneuropathy.
DR Orphanet; 101081; Charcot-Marie-Tooth disease type 1A.
DR Orphanet; 90658; Charcot-Marie-Tooth disease type 1E.
DR Orphanet; 64748; Dejerine-Sottas syndrome.
DR Orphanet; 640; Hereditary neuropathy with liability to pressure palsies.
DR Orphanet; 3115; Roussy-Levy syndrome.
DR PharmGKB; PA33444; -.
DR VEuPathDB; HostDB:ENSG00000109099; -.
DR eggNOG; ENOG502S0F5; Eukaryota.
DR GeneTree; ENSGT00950000182696; -.
DR HOGENOM; CLU_138632_1_0_1; -.
DR InParanoid; Q01453; -.
DR OMA; VRHTDWH; -.
DR OrthoDB; 539311at2759; -.
DR PhylomeDB; Q01453; -.
DR TreeFam; TF330414; -.
DR PathwayCommons; Q01453; -.
DR Reactome; R-HSA-9619665; EGR2 and SOX10-mediated initiation of Schwann cell myelination.
DR SignaLink; Q01453; -.
DR SIGNOR; Q01453; -.
DR BioGRID-ORCS; 5376; 11 hits in 1080 CRISPR screens.
DR ChiTaRS; PMP22; human.
DR GeneWiki; Peripheral_myelin_protein_22; -.
DR GenomeRNAi; 5376; -.
DR Pharos; Q01453; Tbio.
DR PRO; PR:Q01453; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; Q01453; protein.
DR Bgee; ENSG00000109099; Expressed in olfactory bulb and 206 other tissues.
DR ExpressionAtlas; Q01453; baseline and differential.
DR Genevisible; Q01453; HS.
DR GO; GO:0005923; C:bicellular tight junction; IEA:Ensembl.
DR GO; GO:0043218; C:compact myelin; IEA:Ensembl.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:UniProtKB.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0032060; P:bleb assembly; IDA:UniProtKB.
DR GO; GO:0008219; P:cell death; IDA:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IEA:Ensembl.
DR GO; GO:0007268; P:chemical synaptic transmission; TAS:ProtInc.
DR GO; GO:0032288; P:myelin assembly; IBA:GO_Central.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IEA:Ensembl.
DR GO; GO:0010977; P:negative regulation of neuron projection development; IEA:Ensembl.
DR GO; GO:0007422; P:peripheral nervous system development; TAS:ProtInc.
DR InterPro; IPR003936; PMP22.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR InterPro; IPR004032; PMP22_EMP_MP20.
DR PANTHER; PTHR10671:SF7; PTHR10671:SF7; 1.
DR Pfam; PF00822; PMP22_Claudin; 1.
DR PRINTS; PR01453; EPMEMFAMILY.
DR PRINTS; PR01458; PMYELIN22.
DR PROSITE; PS01221; PMP22_1; 1.
DR PROSITE; PS01222; PMP22_2; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Charcot-Marie-Tooth disease; Deafness;
KW Dejerine-Sottas syndrome; Disease variant; Glycoprotein; Membrane;
KW Neurodegeneration; Neuropathy; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..160
FT /note="Peripheral myelin protein 22"
FT /id="PRO_0000164650"
FT TOPO_DOM 1
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 2..31
FT /note="Helical"
FT /evidence="ECO:0000250"
FT TOPO_DOM 32..64
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 65..91
FT /note="Helical"
FT /evidence="ECO:0000250"
FT TOPO_DOM 92..95
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 96..119
FT /note="Helical"
FT /evidence="ECO:0000250"
FT TOPO_DOM 120..133
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 134..156
FT /note="Helical"
FT /evidence="ECO:0000250"
FT TOPO_DOM 157..160
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT CARBOHYD 41
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 12
FT /note="H -> Q (in DSS; dbSNP:rs104894622)"
FT /evidence="ECO:0000269|PubMed:7728152"
FT /id="VAR_006359"
FT VARIANT 16
FT /note="L -> P (in CMT1A and DSS; dbSNP:rs104894617)"
FT /evidence="ECO:0000269|PubMed:12090401,
FT ECO:0000269|PubMed:1303281"
FT /id="VAR_006360"
FT VARIANT 19
FT /note="L -> P (in DSS)"
FT /id="VAR_006361"
FT VARIANT 22
FT /note="S -> F (in HNPP and CMT1A; dbSNP:rs104894625)"
FT /evidence="ECO:0000269|PubMed:15205993"
FT /id="VAR_029960"
FT VARIANT 23
FT /note="T -> R (in CMT1E; dbSNP:rs906563423)"
FT /evidence="ECO:0000269|PubMed:15099592"
FT /id="VAR_029961"
FT VARIANT 25..26
FT /note="Missing (in CMT1A)"
FT /evidence="ECO:0000269|PubMed:10737979"
FT /id="VAR_029962"
FT VARIANT 28
FT /note="W -> R (in CMT1E; dbSNP:rs104894626)"
FT /evidence="ECO:0000269|PubMed:11835375"
FT /id="VAR_029963"
FT VARIANT 30
FT /note="V -> M (in HNPP; dbSNP:rs377335295)"
FT /evidence="ECO:0000269|PubMed:9748013"
FT /id="VAR_009659"
FT VARIANT 37
FT /note="D -> V (in CMT1A; with focally folded myelin
FT sheaths; dbSNP:rs104894627)"
FT /evidence="ECO:0000269|PubMed:10489052"
FT /id="VAR_009660"
FT VARIANT 65
FT /note="V -> F (in CMT1A)"
FT /evidence="ECO:0000269|PubMed:12497641"
FT /id="VAR_029964"
FT VARIANT 67
FT /note="A -> P (in CMT1E; dbSNP:rs104894623)"
FT /evidence="ECO:0000269|PubMed:10330345"
FT /id="VAR_009661"
FT VARIANT 67
FT /note="A -> T (in HNPP; dbSNP:rs104894623)"
FT /evidence="ECO:0000269|PubMed:12796555"
FT /id="VAR_029965"
FT VARIANT 69
FT /note="M -> K (in DSS; dbSNP:rs104894620)"
FT /evidence="ECO:0000269|PubMed:8252046,
FT ECO:0000269|PubMed:8275092"
FT /id="VAR_006362"
FT VARIANT 71
FT /note="L -> P (in DSS)"
FT /evidence="ECO:0000269|PubMed:11835375"
FT /id="VAR_029966"
FT VARIANT 72
FT /note="S -> L (in DSS and CMT1A; dbSNP:rs104894621)"
FT /evidence="ECO:0000269|PubMed:11140841,
FT ECO:0000269|PubMed:11438991, ECO:0000269|PubMed:12402337,
FT ECO:0000269|PubMed:7675244, ECO:0000269|PubMed:8252046,
FT ECO:0000269|PubMed:8275092, ECO:0000269|PubMed:9004143,
FT ECO:0000269|PubMed:9585367"
FT /id="VAR_006363"
FT VARIANT 72
FT /note="S -> P (in DSS)"
FT /id="VAR_006364"
FT VARIANT 72
FT /note="S -> W (in DSS)"
FT /evidence="ECO:0000269|PubMed:9055797"
FT /id="VAR_006365"
FT VARIANT 76
FT /note="S -> I (in DSS)"
FT /evidence="ECO:0000269|PubMed:9055797"
FT /id="VAR_006366"
FT VARIANT 79
FT /note="S -> C (in CMT1A; dbSNP:rs104894618)"
FT /evidence="ECO:0000269|PubMed:8252046,
FT ECO:0000269|PubMed:8510709"
FT /id="VAR_006367"
FT VARIANT 79
FT /note="S -> P (in DSS)"
FT /evidence="ECO:0000269|PubMed:9452053"
FT /id="VAR_006368"
FT VARIANT 80
FT /note="L -> P (in DSS)"
FT /evidence="ECO:0000269|PubMed:9055797"
FT /id="VAR_006369"
FT VARIANT 80
FT /note="L -> R (in DSS)"
FT /evidence="ECO:0000269|PubMed:12090401"
FT /id="VAR_029967"
FT VARIANT 84
FT /note="Missing (in DSS)"
FT /evidence="ECO:0000269|PubMed:9633821"
FT /id="VAR_006370"
FT VARIANT 93
FT /note="G -> R (in CMT1A; dbSNP:rs778693173)"
FT /evidence="ECO:0000269|PubMed:8777804"
FT /id="VAR_009662"
FT VARIANT 100
FT /note="G -> E (in DSS)"
FT /evidence="ECO:0000269|PubMed:9585367"
FT /id="VAR_006371"
FT VARIANT 100
FT /note="G -> R (in DSS)"
FT /evidence="ECO:0000269|PubMed:9187667"
FT /id="VAR_006372"
FT VARIANT 105
FT /note="L -> R (in CMT1A and DSS)"
FT /evidence="ECO:0000269|PubMed:12090401,
FT ECO:0000269|PubMed:8615087"
FT /id="VAR_006373"
FT VARIANT 107
FT /note="G -> V (in CMT1A)"
FT /evidence="ECO:0000269|PubMed:9040744"
FT /id="VAR_006374"
FT VARIANT 109
FT /note="C -> R (in DSS)"
FT /evidence="ECO:0000269|PubMed:11438991"
FT /id="VAR_029968"
FT VARIANT 115..118
FT /note="Missing (in CMT1E)"
FT /evidence="ECO:0000269|PubMed:12578939"
FT /id="VAR_029969"
FT VARIANT 118
FT /note="T -> M (in CMT1A; dbSNP:rs104894619)"
FT /evidence="ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:16437560, ECO:0000269|PubMed:8252046,
FT ECO:0000269|PubMed:8988161, ECO:0000269|PubMed:9452099"
FT /id="VAR_006375"
FT VARIANT 137
FT /note="I -> V (in dbSNP:rs755551524)"
FT /id="VAR_006376"
FT VARIANT 147
FT /note="L -> R (in CMT1A)"
FT /evidence="ECO:0000269|PubMed:10737979,
FT ECO:0000269|PubMed:8655153"
FT /id="VAR_006377"
FT VARIANT 149
FT /note="S -> R (in DSS; dbSNP:rs775019409)"
FT /evidence="ECO:0000269|PubMed:10663978"
FT /id="VAR_029970"
FT VARIANT 150
FT /note="G -> C (in DSS; dbSNP:rs104894624)"
FT /evidence="ECO:0000269|PubMed:9544841"
FT /id="VAR_006378"
FT VARIANT 150
FT /note="G -> D (in DSS; dbSNP:rs879253954)"
FT /evidence="ECO:0000269|PubMed:8995589"
FT /id="VAR_006379"
FT VARIANT 157
FT /note="R -> G (in dbSNP:rs28936682)"
FT /evidence="ECO:0000269|PubMed:10632107"
FT /id="VAR_009663"
FT VARIANT 157
FT /note="R -> W (in DSS; dbSNP:rs28936682)"
FT /evidence="ECO:0000269|PubMed:10211478"
FT /id="VAR_009664"
SQ SEQUENCE 160 AA; 17891 MW; 7ECF7F91BED0CF9D CRC64;
MLLLLLSIIV LHVAVLVLLF VSTIVSQWIV GNGHATDLWQ NCSTSSSGNV HHCFSSSPNE
WLQSVQATMI LSIIFSILSL FLFFCQLFTL TKGGRFYITG IFQILAGLCV MSAAAIYTVR
HPEWHLNSDY SYGFAYILAW VAFPLALLSG VIYVILRKRE
