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 27-MAR-2024, entry version 229. 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 VARIANTS CMTX1 GLY-11; PRO-39; PHE-81; PRO-83; CYS-135; ILE-149; SER-158 RP AND ARG-173. 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; TRP-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; 111-HIS--HIS-116 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; RX DOI=10.1002/(sici)1098-1004(1999)13:4<339::aid-humu18>3.0.co;2-s; 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-ILE-GLY-21 DELINS ASN-SER; LYS-34; ARG-80; VAL-90; RP VAL-93; TRP-107; 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|PubMed:9888385, CC ECO:0000269|Ref.12}. Note=The disease is caused by variants affecting CC 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 PDB; 7ZXM; EM; 2.14 A; A/B/C/D/E/F/G/H/I/J/K/L=1-283. DR PDB; 7ZXN; EM; 3.06 A; A/B/C/D/E/F=1-283. DR PDB; 7ZXO; EM; 2.50 A; A/B/C/D/E/F/G/H/I/J/K/L=1-283. DR PDB; 7ZXP; EM; 2.39 A; A/B/C/D/E/F/G/H/I/J/K/L=1-283. DR PDB; 7ZXQ; EM; 3.53 A; A/B/C/D/E/F=1-283. DR PDB; 7ZXT; EM; 2.90 A; A/B/C/D/E/F=1-283. DR PDBsum; 5KK9; -. DR PDBsum; 7ZXM; -. DR PDBsum; 7ZXN; -. DR PDBsum; 7ZXO; -. DR PDBsum; 7ZXP; -. DR PDBsum; 7ZXQ; -. DR PDBsum; 7ZXT; -. DR AlphaFoldDB; P08034; -. DR EMDB; EMD-15010; -. DR EMDB; EMD-15011; -. DR EMDB; EMD-15012; -. DR EMDB; EMD-15013; -. DR EMDB; EMD-15014; -. DR EMDB; EMD-15016; -. DR SMR; P08034; -. DR BioGRID; 108971; 77. DR IntAct; P08034; 45. DR STRING; 9606.ENSP00000354900; -. DR ChEMBL; CHEMBL4879427; -. DR TCDB; 1.A.24.1.3; the gap junction-forming connexin (connexin) family. DR iPTMnet; P08034; -. DR PhosphoSitePlus; P08034; -. DR SwissPalm; P08034; -. DR BioMuta; GJB1; -. DR DMDM; 117688; -. DR jPOST; P08034; -. DR MassIVE; P08034; -. DR MaxQB; P08034; -. DR PaxDb; 9606-ENSP00000363134; -. DR PeptideAtlas; P08034; -. DR ProteomicsDB; 52060; -. DR Antibodypedia; 542; 630 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 AGR; HGNC:4283; -. DR CTD; 2705; -. DR DisGeNET; 2705; -. DR GeneCards; GJB1; -. DR GeneReviews; GJB1; -. DR HGNC; HGNC:4283; GJB1. DR HPA; ENSG00000169562; Group enriched (brain, liver, pancreas). 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; WIQQKLC; -. DR OrthoDB; 5301774at2759; -. 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; 17 hits in 771 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 165 other cell types or tissues. DR ExpressionAtlas; P08034; baseline and differential. DR GO; GO:0005922; C:connexin complex; IBA:GO_Central. DR GO; GO:0005789; C:endoplasmic reticulum membrane; TAS:Reactome. 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; Gap junction channel protein cysteine-rich domain; 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; CONNEXIN; 1. DR PANTHER; PTHR11984:SF20; GAP JUNCTION BETA-1 PROTEIN; 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. DR Genevisible; P08034; HS. 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 /evidence="ECO:0000269|PubMed:9888385" 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 /evidence="ECO:0000269|PubMed:10737979" 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 /evidence="ECO:0000269|PubMed:9888385" 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 /evidence="ECO:0000269|PubMed:9888385" FT /id="VAR_002056" FT VARIANT 83 FT /note="L -> P (in CMTX1)" FT /evidence="ECO:0000269|PubMed:9888385" 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:9272161, ECO:0000269|PubMed:9361298, FT ECO:0000269|PubMed:9401007, 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 /evidence="ECO:0000269|PubMed:9888385" 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 /evidence="ECO:0000269|PubMed:9888385" FT /id="VAR_002088" FT VARIANT 149 FT /note="F -> V (in CMTX1; uncertain 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 /evidence="ECO:0000269|PubMed:9888385" 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 /evidence="ECO:0000269|PubMed:9888385" 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 //