CXB3_HUMAN
ID CXB3_HUMAN Reviewed; 270 AA.
AC O75712; B2R790; Q2TAZ8;
DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1998, sequence version 1.
DT 03-AUG-2022, entry version 197.
DE RecName: Full=Gap junction beta-3 protein;
DE AltName: Full=Connexin-31;
DE Short=Cx31;
GN Name=GJB3; Synonyms=CX31;
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 [GENOMIC DNA].
RC TISSUE=Placenta;
RX PubMed=9704026; DOI=10.1006/bbrc.1998.9070;
RA Wenzel K., Manthey D., Willecke K., Grzeschik K.-H., Traub O.;
RT "Human gap junction protein connexin31: molecular cloning and expression
RT analysis.";
RL Biochem. Biophys. Res. Commun. 248:910-915(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Xia J.-H., Pan Q., Liu C.-Y., Zheng D., Xie W.;
RT "Molecular cloning of human connexin 31 and 31.1 genes.";
RL Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS EKVP1 ASP-12; ARG-12 AND
RP SER-86.
RX PubMed=9843209; DOI=10.1038/3840;
RA Richard G., Smith L.E., Bailey R.A., Itin P., Hohl D., Epstein E.H. Jr.,
RA DiGiovanna J.J., Compton J.G., Bale S.J.;
RT "Mutations in the human connexin gene GJB3 cause erythrokeratodermia
RT variabilis.";
RL Nat. Genet. 20:366-369(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT TRP-32.
RC TISSUE=Skin, and Urinary bladder;
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 [8]
RP VARIANT DFNA2B LYS-183.
RX PubMed=9843210; DOI=10.1038/3845;
RA Xia J.-H., Liu C.-Y., Tang B.S., Pan Q., Huang L., Dai H.P., Zhang B.R.,
RA Xie W., Hu D.X., Zheng D., Shi X.L., Wang D.A., Xia K., Yu K.P., Liao X.D.,
RA Feng Y., Yang Y.F., Xiao J.Y., Xie D.H., Huang J.Z.;
RT "Mutations in the gene encoding gap junction protein beta-3 associated with
RT autosomal dominant hearing impairment.";
RL Nat. Genet. 20:370-373(1998).
RN [9]
RP VARIANT EKVP1 PRO-42.
RX PubMed=10594760; DOI=10.1046/j.1523-1747.1999.00792.x;
RA Wilgoss A., Leigh I.M., Barnes M.R., Dopping-Hepenstal P., Eady R.A.J.,
RA Walter J.M., Kennedy C.T., Kelsell D.P.;
RT "Identification of a novel mutation R42P in the gap junction protein beta-3
RT associated with autosomal dominant erythrokeratoderma variabilis.";
RL J. Invest. Dermatol. 113:1119-1122(1999).
RN [10]
RP VARIANT TRP-32.
RX PubMed=10757647; DOI=10.1038/sj.ejhg.5200407;
RA Kelsell D.P., Wilgoss A.L., Richard G., Stevens H.P., Munro C.S.,
RA Leigh I.M.;
RT "Connexin mutations associated with palmoplantar keratoderma and profound
RT deafness in a single family.";
RL Eur. J. Hum. Genet. 8:141-144(2000).
RN [11]
RP VARIANTS EKVP1 PRO-42 AND LEU-137.
RX PubMed=10798362; DOI=10.1007/s004390051045;
RA Richard G., Brown N., Smith L.E., Terrinoni A., Melino G., Mackie R.M.,
RA Bale S.J., Uitto J.;
RT "The spectrum of mutations in erythrokeratodermias -- novel and de novo
RT mutations in GJB3.";
RL Hum. Genet. 106:321-329(2000).
RN [12]
RP VARIANTS TRP-32 AND ILE-200.
RX PubMed=10790215;
RX DOI=10.1002/(sici)1098-1004(200005)15:5<481::aid-humu15>3.0.co;2-7;
RA Lopez-Bigas N., Rabionet R., Martinez E., Banchs I., Volpini V.,
RA Vance J.M., Arbones M.L., Estivill X.;
RT "Identification of seven novel SNPS (five nucleotide and two amino acid
RT substitutions) in the connexin31 (GJB3) gene.";
RL Hum. Mutat. 15:481-482(2000).
RN [13]
RP VARIANTS TRP-32 AND ILE-200.
RX PubMed=19283857; DOI=10.1002/ajmg.a.32765;
RA Alexandrino F., de Oliveira C.A., Magalhaes R.F., Florence M.E.,
RA de Souza E.M., Sartorato E.L.;
RT "Connexin mutations in Brazilian patients with skin disorders with or
RT without hearing loss.";
RL Am. J. Med. Genet. A 149:681-684(2009).
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 O75712; Q8WVV5: BTN2A2; NbExp=3; IntAct=EBI-3908586, EBI-8648738;
CC O75712; P21964: COMT; NbExp=3; IntAct=EBI-3908586, EBI-372265;
CC O75712; Q96F15: GIMAP5; NbExp=3; IntAct=EBI-3908586, EBI-6166686;
CC O75712; P24593: IGFBP5; NbExp=3; IntAct=EBI-3908586, EBI-720480;
CC O75712; O43561-2: LAT; NbExp=3; IntAct=EBI-3908586, EBI-8070286;
CC O75712; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-3908586, EBI-2820517;
CC O75712; O43934: MFSD11; NbExp=3; IntAct=EBI-3908586, EBI-17633886;
CC O75712; Q9NS64: RPRM; NbExp=3; IntAct=EBI-3908586, EBI-1052363;
CC O75712; Q9Y6X1: SERP1; NbExp=3; IntAct=EBI-3908586, EBI-10329948;
CC O75712; Q5BJF2: TMEM97; NbExp=3; IntAct=EBI-3908586, EBI-12111910;
CC O75712; Q71RG4: TMUB2; NbExp=3; IntAct=EBI-3908586, EBI-2820477;
CC O75712; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-3908586, EBI-11988865;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell
CC junction, gap junction.
CC -!- DISEASE: Erythrokeratodermia variabilis et progressiva 1 (EKVP1)
CC [MIM:133200]: A form of erythrokeratodermia variabilis et progressiva,
CC a genodermatosis characterized by the coexistence of two independent
CC skin lesions: transient erythema and hyperkeratosis that is usually
CC localized but occasionally occurs in its generalized form. Clinical
CC presentation varies significantly within a family and from one family
CC to another. Palmoplantar keratoderma is present in around 50% of cases.
CC {ECO:0000269|PubMed:10594760, ECO:0000269|PubMed:10798362,
CC ECO:0000269|PubMed:9843209}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]: A form
CC of non-syndromic sensorineural deafness characterized by progressive
CC high frequency hearing loss in adulthood, with milder expression in
CC females. {ECO:0000269|PubMed:9843210}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the connexin family. Beta-type (group I)
CC subfamily. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Connexin-deafness homepage;
CC URL="http://perelman.crg.es/deafness/";
CC -!- WEB RESOURCE: Name=Hereditary hearing loss homepage; Note=Gene page;
CC URL="https://hereditaryhearingloss.org/dominant-genes";
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DR EMBL; AJ004856; CAA06165.1; -; Genomic_DNA.
DR EMBL; AF052692; AAD11816.1; -; mRNA.
DR EMBL; AF099730; AAC95471.1; -; Genomic_DNA.
DR EMBL; AK312890; BAG35737.1; -; mRNA.
DR EMBL; AL121988; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX07442.1; -; Genomic_DNA.
DR EMBL; BC012918; AAH12918.1; -; mRNA.
DR EMBL; BC110640; AAI10641.1; -; mRNA.
DR CCDS; CCDS384.1; -.
DR PIR; JE0274; JE0274.
DR RefSeq; NP_001005752.1; NM_001005752.1.
DR RefSeq; NP_076872.1; NM_024009.2.
DR AlphaFoldDB; O75712; -.
DR SMR; O75712; -.
DR BioGRID; 108973; 21.
DR CORUM; O75712; -.
DR IntAct; O75712; 13.
DR STRING; 9606.ENSP00000362464; -.
DR TCDB; 1.A.24.1.10; the gap junction-forming connexin (connexin) family.
DR iPTMnet; O75712; -.
DR PhosphoSitePlus; O75712; -.
DR BioMuta; GJB3; -.
DR EPD; O75712; -.
DR jPOST; O75712; -.
DR MassIVE; O75712; -.
DR MaxQB; O75712; -.
DR PaxDb; O75712; -.
DR PeptideAtlas; O75712; -.
DR PRIDE; O75712; -.
DR ProteomicsDB; 50170; -.
DR Antibodypedia; 31497; 313 antibodies from 30 providers.
DR DNASU; 2707; -.
DR Ensembl; ENST00000373362.3; ENSP00000362460.3; ENSG00000188910.8.
DR Ensembl; ENST00000373366.3; ENSP00000362464.2; ENSG00000188910.8.
DR GeneID; 2707; -.
DR KEGG; hsa:2707; -.
DR MANE-Select; ENST00000373366.3; ENSP00000362464.2; NM_024009.3; NP_076872.1.
DR UCSC; uc001bxx.4; human.
DR CTD; 2707; -.
DR DisGeNET; 2707; -.
DR GeneCards; GJB3; -.
DR GeneReviews; GJB3; -.
DR HGNC; HGNC:4285; GJB3.
DR HPA; ENSG00000188910; Group enriched (esophagus, skin).
DR MalaCards; GJB3; -.
DR MIM; 133200; phenotype.
DR MIM; 603324; gene+phenotype.
DR MIM; 612644; phenotype.
DR neXtProt; NX_O75712; -.
DR OpenTargets; ENSG00000188910; -.
DR Orphanet; 90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA.
DR Orphanet; 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB.
DR Orphanet; 317; Erythrokeratodermia variabilis.
DR Orphanet; 139512; Neuropathy with hearing impairment.
DR PharmGKB; PA28696; -.
DR VEuPathDB; HostDB:ENSG00000188910; -.
DR eggNOG; ENOG502QRC0; Eukaryota.
DR GeneTree; ENSGT01030000234513; -.
DR HOGENOM; CLU_037388_4_1_1; -.
DR InParanoid; O75712; -.
DR OMA; CIVLTVC; -.
DR OrthoDB; 902090at2759; -.
DR PhylomeDB; O75712; -.
DR TreeFam; TF329606; -.
DR PathwayCommons; O75712; -.
DR Reactome; R-HSA-190861; Gap junction assembly.
DR SignaLink; O75712; -.
DR BioGRID-ORCS; 2707; 20 hits in 1062 CRISPR screens.
DR GeneWiki; GJB3; -.
DR GenomeRNAi; 2707; -.
DR Pharos; O75712; Tbio.
DR PRO; PR:O75712; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O75712; protein.
DR Bgee; ENSG00000188910; Expressed in skin of abdomen and 139 other tissues.
DR ExpressionAtlas; O75712; baseline and differential.
DR Genevisible; O75712; HS.
DR GO; GO:0030054; C:cell junction; IDA:HPA.
DR GO; GO:0005922; C:connexin complex; IEA:InterPro.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0005921; C:gap junction; NAS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005243; F:gap junction channel activity; IBA:GO_Central.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:0071300; P:cellular response to retinoic acid; IEA:Ensembl.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR GO; GO:0001890; P:placenta development; IEA:Ensembl.
DR GO; GO:0043588; P:skin development; IEA:Ensembl.
DR GO; GO:0007283; P:spermatogenesis; IEA:Ensembl.
DR Gene3D; 1.20.1440.80; -; 1.
DR InterPro; IPR000500; Connexin.
DR InterPro; IPR002269; Connexin31.
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 PANTHER; PTHR11984:SF65; PTHR11984:SF65; 1.
DR Pfam; PF00029; Connexin; 1.
DR PRINTS; PR00206; CONNEXIN.
DR PRINTS; PR01140; CONNEXINB3.
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 Cell junction; Cell membrane; Deafness; Disease variant; Gap junction;
KW Membrane; Non-syndromic deafness; Palmoplantar keratoderma;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..270
FT /note="Gap junction beta-3 protein"
FT /id="PRO_0000057862"
FT TOPO_DOM 1..20
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 21..40
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 41..75
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 76..98
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 99..126
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 127..149
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 150..187
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 188..210
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 211..270
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 250..270
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 12
FT /note="G -> D (in EKVP1; dbSNP:rs74315316)"
FT /evidence="ECO:0000269|PubMed:9843209"
FT /id="VAR_002147"
FT VARIANT 12
FT /note="G -> R (in EKVP1; dbSNP:rs74315315)"
FT /evidence="ECO:0000269|PubMed:9843209"
FT /id="VAR_002148"
FT VARIANT 32
FT /note="R -> W (in dbSNP:rs1805063)"
FT /evidence="ECO:0000269|PubMed:10757647,
FT ECO:0000269|PubMed:10790215, ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:19283857"
FT /id="VAR_011978"
FT VARIANT 42
FT /note="R -> P (in EKVP1; dbSNP:rs74315321)"
FT /evidence="ECO:0000269|PubMed:10594760,
FT ECO:0000269|PubMed:10798362"
FT /id="VAR_015085"
FT VARIANT 86
FT /note="C -> S (in EKVP1; dbSNP:rs74315317)"
FT /evidence="ECO:0000269|PubMed:9843209"
FT /id="VAR_002149"
FT VARIANT 137
FT /note="F -> L (in EKVP1)"
FT /evidence="ECO:0000269|PubMed:10798362"
FT /id="VAR_015086"
FT VARIANT 141
FT /note="I -> V (in DFNA2B; dbSNP:rs74315320)"
FT /id="VAR_015087"
FT VARIANT 183
FT /note="E -> K (in DFNA2B; unknown pathological
FT significance; dbSNP:rs74315318)"
FT /evidence="ECO:0000269|PubMed:9843210"
FT /id="VAR_002150"
FT VARIANT 200
FT /note="V -> I (in dbSNP:rs61734064)"
FT /evidence="ECO:0000269|PubMed:10790215,
FT ECO:0000269|PubMed:19283857"
FT /id="VAR_022423"
SQ SEQUENCE 270 AA; 30818 MW; E46D36E5835646A4 CRC64;
MDWKTLQALL SGVNKYSTAF GRIWLSVVFV FRVLVYVVAA ERVWGDEQKD FDCNTKQPGC
TNVCYDNYFP ISNIRLWALQ LIFVTCPSLL VILHVAYREE RERRHRQKHG DQCAKLYDNA
GKKHGGLWWT YLFSLIFKLI IEFLFLYLLH TLWHGFNMPR LVQCANVAPC PNIVDCYIAR
PTEKKIFTYF MVGASAVCIV LTICELCYLI CHRVLRGLHK DKPRGGCSPS SSASRASTCR
CHHKLVEAGE VDPDPGNNKL QASAPNLTPI
