Mutation data of the GJB1 gene

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Symptom Hereditary Pattern*2 Onset Reference
M 68 1 C V23A 1 GTA-GCA at ntd 68 --> Val-Ala at codon 23 X-linked Charcot-Marie-Tooth disease type 2 distal muscle atrophy, areflexia and foot deformity XD early Bort (1997) Hum. Genet. 99, 746.
M 191 1 C C64S 1 TGC-TCC at ntd 191 --> Cys-Ser at codon 64 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bort (1997) Hum. Genet. 99, 746.
M 259 1 T P87S 1 CCA-TCA at ntd 259 --> Pro-Ser at codon 87 X-linked Charcot-Marie-Tooth disease type 2 distal muscle atrophy, areflexia and foot deformity XD early Bort (1997) Hum. Genet. 99, 746.
M 490 1 T R164W 1 CGG-TGG at ntd 490 --> Arg-Trp at codon 164 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bort (1997) Hum. Genet. 99, 746.
M 491 1 A R164G 2 CGG-CAG at ntd 491 --> Arg-Gln at codon 164 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bort (1997) Hum. Genet. 99, 746.
M 547 1 A R183S 1 CGC-AGC at ntd 547 --> Arg-Ser at codon 183 X-linked Charcot-Marie-Tooth disease type 2 distal muscle atrophy, areflexia and foot deformity XD early Bort (1997) Hum. Genet. 99, 746.
M 548 1 A R183H 1 CGC-CAC at ntd 548 --> Arg-His at codon 183 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bort (1997) Hum. Genet. 99, 746.
M 547 1 T R183C 1 CGC-TGC at ntd 547 --> Arg-Cys at codon 183 X-linked Charcot-Marie-Tooth disease type 2 distal muscle atrophy, areflexia and foot deformity XD early Bort (1997) Hum. Genet. 99, 746.
M 643 1 T R215W 1 CGG-TGG at ntd 643 --> Arg-Trp at codon 215 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bort (1997) Hum. Genet. 99, 746.
N 65 2 TA R22X 1 CGA-TAA at ntd 65 --> Arg-Term at codon 22 X-linked Charcot-Marie-Tooth disease type 1 severe distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
M 65 1 A R22Q 2 CGA-CAA at ntd 65 --> Arg-Gln at codon 22 X-linked Charcot-Marie-Tooth disease type 1 moderate to severe distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
M 230 1 C W77S 1 TGG-TCG at ntd 230 --> Trp-Ser at codon 77 X-linked Charcot-Marie-Tooth disease type 1 mild distal muscle atrophy, areflexia and foot deformity XD late Ionasescu (1996) Am. J. Med. Genet. 63, 486.
M 239 1 G Q80R 1 CAG-CGG at ntd 239 --> Gln-Arg at codon 80 X-linked Charcot-Marie-Tooth disease type 1 mild distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
M 305 1 G Q102G 4 GAG-GGG at ntd 305 --> Glu-Gly at codon 102 X-linked Charcot-Marie-Tooth disease type 1 mild distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
D 331 18   331del18 1 18-bp del at nucleotide 331-348 --> del of 6 amino acids at codons 111-116 X-linked Charcot-Marie-Tooth disease type 1 mild to moderate distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
M 424 1 T R142W 2 CGG-TGG at ntd 424 --> Arg-Trp at codon 142 X-linked Charcot-Marie-Tooth disease type 1 mild distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
M 490 1 T R164W 2 CGG-TGG at ntd 490 --> Arg-Trp at codon 164 X-linked Charcot-Marie-Tooth disease type 1 moderate to severe distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
FI 556 0 G 556insG 1 1-bp ins of G at nucleotide 556 --> frameshift at codon 186 X-linked Charcot-Marie-Tooth disease type 1 severe distal muscle atrophy, areflexia and foot deformity XD late Ionasescu (1996) Am. J. Med. Genet. 63, 486.
N 556 1 T Q186X 1 GAG-TAG at ntd 556 --> Glu-Term at codon 186 X-linked Charcot-Marie-Tooth disease type 1 severe distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
N 651 1 A C217X 2 TGT-TGA at ntd 651 --> Cys-Term at codon 217 X-linked Charcot-Marie-Tooth disease type 1 severe distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
N 658 1 T R220X 1 CGA-TGA at ntd 658 --> Arg-Term at codon 220 X-linked Charcot-Marie-Tooth disease type 1 severe distal muscle atrophy, areflexia and foot deformity XD late Ionasescu (1996) Am. J. Med. Genet. 63, 486.
FD 793 29   793del29 1 del of 29-bp at nucleotides 793-821 --> termination at codon 266 X-linked Charcot-Marie-Tooth disease type 1 severe distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
M 8 1 C W3S 1 TGG-TCG at ntd 8 --> Trp-Ser at codon 3 X-linked Charcot-Marie-Tooth disease type 1 moderate to severe distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
M 7 1 C W3R 1 TGG-CGG at ntd 7 --> Trp-Arg at codon 3 X-linked Charcot-Marie-Tooth disease type 1 mild distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Am. J. Med. Genet. 63, 486.
M 34 1 A G12S 1 GGC-AGC at ntd 34 --> Gly-Ser at codon 12 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bergoffen (1993) Science 262, 2039.
M 415 1 A V139M 2 GTG-ATG at ntd 415 --> Val-Met at codon 139 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bergoffen (1993) Science 262, 2039.
M 424 1 T R142W 1 CGG-TGG at ntd 424 --> Arg-Trp at codon 142 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bergoffen (1993) Science 262, 2039.
M 467 1 G L156R 1 CTC-CGC at ntd 467 --> Leu-Arg at codon 156 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bergoffen (1993) Science 262, 2039.
M 514 1 T P172S 1 CCC-TCC at ntd 514 --> Pro-Ser at codon 172 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bergoffen (1993) Science 262, 2039.
M 556 1 A E186K 1 GAG-AAG at ntd 556 --> Glu-Lys at codon 186 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bergoffen (1993) Science 262, 2039.
M 415 1 A V139M 1 CTG-ATG at ntd 415 --> Val-Met at codon 139 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bone (1995) Neurology 45, 1863.
M 397 1 C W133R 1 TGG-CGG at ntd 397 --> Trp-Arg at codon 133 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bone (1995) Neurology 45, 1863.
N 658 1 T R220X 2 CGA-TGA at ntd 658 --> Arg-Term at codon 220 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bone (1995) Neurology 45, 1863.
M 89 1 A I30N 1 ATC-AAC at ntd 89 --> Ile-Asn at codon 30 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bone (1995) Neurology 45, 1863.
M 467 1 G L156R 1 CTC-CGC at ntd 467 --> Leu-Arg at codon 156 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bone (1995) Neurology 45, 1863.
M 194 1 G Y65C 1 TAT-TGT at ntd 194 --> Tyr-Cys at codon 65 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bone (1995) Neurology 45, 1863.
M 37 1 T V13L 1 GTG-TTG at ntd 37 --> Val-Leu at codon 13 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bone (1995) Neurology 45, 1863.
FD 410 1   410delT 1 1-bp del of T at nucleotide 410 --> frameshift at codon 137 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bone (1995) Neurology 45, 1863.
M 283 1 A V95M 1 GTG-ATG at ntd 283 --> Val-Met at codon 95 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Bone (1995) Neurology 45, 1863.
M 44 1 A R15E 1 CGG-CAG at ntd 44 --> Arg-Gln at codon 15 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Fairweather (1994) Hum. Mol. Genet. 3, 29.
M 179 1 T C60F 1 TGC-TTC at ntd 179 --> Cys-Phe at codon 60 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Fairweather (1994) Hum. Mol. Genet. 3, 29.
M 187 1 A V63I 1 GTT-ATT at ntd 187 --> Val-Ile at codon 63 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Fairweather (1994) Hum. Mol. Genet. 3, 29.
FD 217 1   217delC 1 1-bp del of C at nucleotide 217 --> frameshift at codon 73 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Fairweather (1994) Hum. Mol. Genet. 3, 29.
D 428 3   428delTGT 1 3-bp del of TGT at nucleotides 428-430 --> del of Leu at codon 143 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Fairweather (1994) Hum. Mol. Genet. 3, 29.
M 622 1 A Q208K 1 GAG-AAG at ntd 622 --> Gln-Lys at codon 208 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Fairweather (1994) Hum. Mol. Genet. 3, 29.
M 643 1 T R215W 1 CGG-TGG at ntd 643 --> Arg-Trp at codon 215 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Fairweather (1994) Hum. Mol. Genet. 3, 29.
N 658 1 T R220X 1 CGA-TGA at ntd 658 --> Arg-Term at codon 220 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Fairweather (1994) Hum. Mol. Genet. 3, 29.
M 43 1 T R15W 1 CGG-TGG at ntd 43 --> Arg-Trp at codon 15 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Janssen (1997) Hum. Genet. 99, 501.
N 64 1 T R22X 1 CGA-TGA at ntd 64 --> Arg-Term at codon 22 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Janssen (1997) Hum. Genet. 99, 501.
M 187 1 A V63I 1 GTT-ATT at ntd 187 --> Val-Ile at codon 63 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Janssen (1997) Hum. Genet. 99, 501.
M 254 1 G S85C 1 TCC-TGC at ntd 254 --> Ser-Cys at codon 85 X-linked Charcot-Marie-Tooth disease type 1 distal muscle paresis XD late Janssen (1997) Hum. Genet. 99, 501.
M 259 1 T P87S 1 CCA-TCA at ntd 259--> Pro-Ser at codon 87 X-linked Charcot-Marie-Tooth disease type 1 severe distal muscle atrophy, areflexia and foot deformity XD early Janssen (1997) Hum. Genet. 99, 501.
M 266 1 C L89P 1 CTC-CCC at ntd 266 --> Leu-Pro at codon 89 X-linked Charcot-Marie-Tooth disease type 1 mild distal muscle atrophy, areflexia and foot deformity XD early Janssen (1997) Hum. Genet. 99, 501.
M 415 1 A V139M 1 GTG-ATG at ntd 415 --> Val-Met at codon 139 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Janssen (1997) Hum. Genet. 99, 501.
M 595 1 C G199R 1 GGC-CGC at ntd 595 --> Gly-Arg at codon 199 X-linked Charcot-Marie-Tooth disease type 1 mild distal muscle atrophy, areflexia and foot deformity XD early Janssen (1997) Hum. Genet. 99, 501.
M 20 1 G Y7C 1 TAC-TGC at ntd 20 --> Tyr-Cys at codon 7 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Schiavon (1996) Hum. Mutat. 8, 83.
M 73 1 T L25F 1 CTC-TTC at ntd 73 --> Leu-Phe at codon 25 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Nelis (1997) Hum. Mutat. 9, 47.
M 77 1 T S26L 1 TCG-TTG at ntd 77 --> Ser-Leu at codon 26 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Nelis (1997) Hum. Mutat. 9, 47.
M 259 1 G P87A 1 CCA-GCA at ntd 259 --> Pro-Ala at codon 87 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Nelis (1997) Hum. Mutat. 9, 47.
M 713 1 A R238H 1 CGC-CAC at ntd 713 --> Arg-His at codon 238 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Nelis (1997) Hum. Mutat. 9, 47.
N 842 1 A S281X 1 TCG-TAG at ntd 842 --> Ser-Term at codon 281 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Nelis (1997) Hum. Mutat. 9, 47.
M 77 1 T S26L 1 TCG-TTG at ntd 77 --> Ser-Leu at codon 26 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Yoshimura (1996) Hum. Mutat. 8, 270.
M 158 1 C C53S 1 TGC-TCC at ntd 158 --> Cys-Ser at codon 53 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Yoshimura (1996) Hum. Mutat. 8, 270.
M 101 1 C M34T 1 ATG-ACG at ntd 101 --> Met-Thr at codon 34 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Tan (1996) Hum. Mutat. 7, 167.
M 224 1 A R75Q 1 CGG-CAG at ntd 224 --> Arg-Gln at codon 75 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Tan (1996) Hum. Mutat. 7, 167.
M 319 1 T R107W 1 CGG-TGG at ntd 319 --> Arg-Trp at codon 107 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Tan (1996) Hum. Mutat. 7, 167.
N 633 1 A Y211X 1 TAC-TAA at ntd 633 --> Tyr-Term at codon 211 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Tan (1996) Hum. Mutat. 7, 167.
M 65 1 C R22P 1 CGA-CCA at ntd 65 --> Arg-Pro at codon 22 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ressot (1996) Hum. Genet. 98, 172.
N 64 1 T R22X 1 CGA-TGA at ntd 64 --> Arg-Term at codon 22 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ressot (1996) Hum. Genet. 98, 172.
M 64 1 G R22G 1 CGA-GGA at ntd 64 --> Arg-Gly at codon 22 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ressot (1996) Hum. Genet. 98, 172.
N 398 1 A W133X 1 TGG-TGA at ntd 398 --> Trp-Term at codon 133 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ressot (1996) Hum. Genet. 98, 172.
M 643 1 T R215W 1 CGG-TGG at ntd 643 --> Arg-Trp at codon 215 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ressot (1996) Hum. Genet. 98, 172.
N 64 1 T R22X 1 CGA-TGA at ntd 64 --> Arg-Term at codon 22 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1994) Hum. Molec. Genet. 3, 355.
M 305 1 G E102G 1 GAG-GGG at ntd 305 --> Glu-Gly at codon 102 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1994) Hum. Molec. Genet. 3, 355.
M 425 1 A R142Q 1 CGG-CAG at ntd 425 --> Arg-Gln at codon 142 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1994) Hum. Molec. Genet. 3, 355.
N 556 1 T E186X 1 GAG-TAG at ntd 556 --> Glu-Term at codon 186 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1994) Hum. Molec. Genet. 3, 355.
N 651 1 A C217X 1 TGT-TGA at ntd 651 --> Cys-Term at codon 217 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1994) Hum. Molec. Genet. 3, 355.
M 112 1 A V38M 1 GTG-ATG at ntd 112 --> Val-Met at codon 38 X-linked Charcot-Marie-Tooth disease type 1 distal muscle atrophy, areflexia and foot deformity XD early Orth (1994) Hum. Molec. Genet. 3, 1699.
M 65 1 A R22Q 2 CGA-CAA at ntd 65 --> Arg-Gln at codon 22 X-linked Charcot-Marie-Tooth disease type 2 severe distal muscle atrophy, areflexia and foot deformity XD early Silander (1997) Hum. Genet. 100, 391.
M 65 1 A R22Q 1 CGA-CAA at ntd 65 --> Arg-Gln at codon 22 X-linked Charcot-Marie-Tooth disease type 1 mild distal muscle atrophy, areflexia and foot deformity XD early Silander (1997) Hum. Genet. 100, 391.
M 224 1 A R75Q 1 CGG-CAG at ntd 224 --> Arg-Gln at codon 75 X-linked Charcot-Marie-Tooth disease type 2 moderate distal muscle atrophy, areflexia and foot deformity XD early Silander (1997) Hum. Genet. 100, 391.
M 223 1 T R75W 1 CGG-TGG at ntd 223 --> Arg-Trp at codon 75 X-linked Charcot-Marie-Tooth disease type unspecified mild distal muscle atrophy, areflexia and foot deformity XD early Silander (1997) Hum. Genet. 100, 391.
M 319 1 T R107W 1 CGG-TGG at ntd 319 --> Arg-Trp at codon 107 X-linked Charcot-Marie-Tooth disease type 2 severe distal muscle atrophy, areflexia and foot deformity XD late Silander (1997) Hum. Genet. 100, 391.
M 415 1 A V139M 1 GTG-ATG at ntd 415 --> Val-Met at codon 139 X-linked Charcot-Marie-Tooth disease type 2 moderate distal muscle atrophy, areflexia and foot deformity XD early Silander (1997) Hum. Genet. 100, 391.
M 580 1 G M194V 1 ATG-GTG at ntd 580 --> Met-Val at codon 194 X-linked Charcot-Marie-Tooth disease type 2 severe distal muscle atrophy, areflexia and foot deformity XD early Silander (1997) Hum. Genet. 100, 391.
PR -528 1 G -528T->G 1 T-G at nucleotide -528 X-linked Charcot-Marie-Tooth disease type 1 moderate distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Neurology 47, 541.
PR -458 1 T -458C->T 1 C-T at nucleotide -458 X-linked Charcot-Marie-Tooth disease type 1 moderate distal muscle atrophy, areflexia and foot deformity XD early Ionasescu (1996) Neurology 47, 541.

*1 Abbreviations are as follows: M, Missense; N, Nonsense; PR, Promoter; D, Deletion; FD, Frameshift Deletion; FI, Frameshift Insertion.
*2 Abbreviations are as follows: XD, X-linked Dominant.







Last updated 2 April 1999