Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Reference

Title Connexin32 and X-linked Charcot-Marie-Tooth disease.
Authors Bone LJ, Deschenes SM, Balice-Gordon RJ, Fischbeck KH, Scherer SS
Reference Neurobiol Dis 4: 221-230, 1997 (PubMed ID: 9361298 )
GJB1 (Cx32): (Val13Met) (Asn14Lys) (His16Pro) (Ile20Ser) (Gly21Asp) (Arg22Gln) (Ser26Leu) (Ile28Asn) (Ile28Thr) (Phe29Leu) (Met34Val) (Glu41Lys) (Trp44Leu) (Val63Ile) (Arg75Trp) (Arg75Pro) (Trp77X) (Gln80X) (Ser85Phe) (Thr86Ser) (Thr86Asn) (Pro87Leu) (His94Tyr) (His94Gln) (Val95Met) (His100Tyr) (Lys103Glu) (Arg107Trp) (Lys124fs) (Lys124Asn) (Ser128Pro) (Arg142Gln) (Tyr154X) (Tyr157Cys) (Pro158Arg) (Tyr160His) (Ala161Pro) (Arg164Gln) (Pro172Leu) (Asp178Tyr) (Cys179Arg) (Phe180Leu) (Val181Met) (Arg183Cys) (Arg183His) (Thr185del) (Lys187Glu) (Val189Ile) (Val189Gly) (Thr191_Phe193del) (Thr191fs) (Thr191_Phe193del) (Phe193Cys) (Ser198Phe) (Cys201Arg) (Leu204Val) (Asn205Ser) (Arg219Cys) (Arg219His) (Arg220Gly) (Arg230Cys) (Arg230Leu) (Phe235Cys) (Pro267fs)
Mutations

Reference

Title Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease.
Authors Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE
Reference Hum Mol Genet 3: 29-34, 1994 (PubMed ID: 8162049 )
GJB1 (Cx32): (Arg15Gln) (Cys60Phe) (Val63Ile) (His73fs) (Leu144del) (Glu208Lys) (Arg215Trp) (Arg220X)
Mutations

Reference

Title 3rd workshop of the European CMT consortium: 54th ENMC international workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, 28-30 November 1997, Naarden, The Netherlands.
Authors Haites NE, Nelis E, Van Broeckhoven C
Reference Neuromuscul Disord 8: 591-603, 1998 (PubMed ID: 10093067 )
PMP22: (Leu19Pro) (Trp61X) (Thr118Met) MPZ (P0): (Val32Phe) (Ser54Cys) (Asp75fs) (Ser78Leu) (Tyr82Cys) (Arg98Cys) (Ile99Thr) (Ile112Thr) (Asp128Glu) (Thr143Met) (Ser226fs) GJB1 (Cx32): (Thr8Pro) (Ser11Gly) (Arg15Gln) (Arg22X) (Arg22Gln) (Ser26X) (Ser26Leu) (Ile30Asn) (Phe31_Arg32insIlePhe) (Ala39Pro) (Ala39Val) (Val43Met) (Gly59Cys) (Cys60Phe) (Val63Ile) (Asp66del) (Ile71fs) (Arg75Gln) (Leu81Phe) (Leu83Pro) (Val95Met) (Met105fs) (Arg107Trp) (Trp132fs) (Tyr135Cys) (Val139Met) (Phe149Ile) (Pro158Ser) (Arg164Trp) (Cys173Arg) (Glu186Lys) (Glu208Lys) (Glu254fs)
Mutations

Reference

Title Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
Authors Janssen EA, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA
Reference Hum Genet 99: 501-505, 1997 (PubMed ID: 9099841 )
GJB1 (Cx32): (Arg15Trp) (Arg22X) (Val63Ile) (Ser85Cys) (Pro87Ser) (Leu89Pro) (Val139Met) (Gly199Arg)
Mutations

Reference

Title Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
Authors Matsuyama W, Nakagawa M, Moritoyo T, Takashima H, Umehara F, Hirata K, Suehara M, Osame M
Reference J Hum Genet 46: 307-313, 2001 (PubMed ID: 11393532 )
GJB1 (Cx32): (Arg22Gln) (Val63Ile) (Glu186Lys)
Mutations

Reference

Title Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.
Authors Takashima H, Nakagawa M, Umehara F, Hirata K, Suehara M, Mayumi H, Yoshishige K, Matsuyama W, Saito M, Jonosono M, Arimura K, Osame M
Reference Acta Neurol Scand 107: 31-37, 2003 (PubMed ID: 12542510 )
GJB1 (Cx32): (Arg22Gln) (Val63Ile) (Glu186Lys) (Deletion of complete coding region)
Mutations

Reference

Title Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
Authors Casasnovas C, Banchs I, Corral J, Martínez-Matos JA, Volpini V.
Reference Clin Genet 70: 516-523, 2006 (PubMed ID: 17100997 )
GJB1 (Cx32): (Tyr7Cys) (Val23Ala) (Ala39fs) (Glu47Gly) (Cys53Ser) (Val63Ile) (Phe69Leu) (Arg75Trp) (Ala147Ala) (Phe153fs) (Arg164Trp) (Arg164Gln) (Asp169Asp) (Cys179Tyr) (Val181Met) (Arg183His) (Cys201Arg) (Cys201Phe) (Tyr211His) (Leu212fs) (Ile214Asn)
Mutations

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