Mutation Data of the MPZ gene

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Symptom Hereditary Pattern*2 Onset Age Reference
M 90 1 G I30M 1 ATC-ATG at ntd 90 --> Ile-Met at codon 30 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Hayasaka (1993) Hum. Mol. Genet. 2, 1369.
M 188 1 T S63F 1 TCC-TTC at ntd 188 --> Ser-Phe at codon 63 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Blanquet-Grossard (1995) Clin. Genet. 48, 281.
M 233 1 T S78L 1 TCG-TTG at ntd 233 --> Ser-Leu at codon 78 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Nelis (1994) Hum. Genet. 94, 653.
M 400 1 A D134N 1 GAC-AAC at ntd 400 --> Asp-Asn at codon 134 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Nelis (1994) Hum. Genet. 94, 653.
N 462 1 A Y154X 1 TAC-TAA at ntd 462 --> Tyr-Term at codon 154 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Nelis (1994) Hum. Genet. 94, 653.
N 543 1 G Y181X 1 TAC-TAG at ntd 543 --> Tyr-Term at codon 181 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Nelis (1994) Hum. Genet. 94, 653.
P 276 1 A V/V92 1 GTG-GTA at ntd 276 --> Val-Val at codon 92 Charcot-Marie-Tooth disease type 1B - - - Nelis (1994) Hum. Genet. 94, 653.
P 684 1 T S/S228 1 AGC-AGT at ntd 684 --> Ser-Ser at codon 228 Charcot-Marie-Tooth disease type 1B - - - Nelis (1994) Hum. Genet. 94, 653.
M 270 1 A D90E 1 GAC-GAA at ntd 270 --> Asp-Glu at codon 90 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Hayasaka (1993) Nature Genet. 5, 31.
M 286 1 G K96E 1 AAA-GAA at ntd 286 --> Lys-Glu at codon 96 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Hayasaka (1993) Nature Genet. 5, 31.
M 278 1 A G93E 1 GGG-GAG at ntd 278 --> Gly-Glu at codon 93 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Ikegami (1997) Am. J. Med. Genet. 71, 246.
M 293 1 A R98H 1 CGC-CAC at ntd 293--> Arg-His at codon 98 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Rouger (1996) Am. J. Hum. Genet. 58, 638.
M 293 1 C R98P 2 CGC-CCC at ntd 293 --> Arg-Pro at codon 98 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Rouger (1996) Am. J. Hum. Genet. 58, 638.
M 292 1 T R98C 1 CGC-TGC at ntd 292 --> Arg-Cys at codon 98 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Rouger (1996) Am. J. Hum. Genet. 58, 638.
M 188 1 G S63C 1 TCC-TGC at ntd 188 --> Ser-Cys at codon 63 Dejerine-Sottas syndrome severely reduced nerve conduction velocity AD early Hayasaka (1993) Nature Genet. 5, 266.
M 499 1 C G167R 1 GGG-CGG at ntd 499 --> Gly-Arg at codon 167 Dejerine-Sottas syndrome severely reduced nerve conduction velocity AD early Hayasaka (1993) Nature Genet. 5, 266.
M 242 1 G H81R 1 CAC-CGC at ntd 242 --> His-Arg at codon 81 Charcot-Marie-Tooth disease type 1B severe distal muscle atrophy, areflexia and foot deformity AD early Sorour (1997) Hum. Mutat. 9, 74.
M 233 1 T S78L 1 TCG-TTG at ntd 233 --> Ser-Leu at codon 78 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Latour (1995) Hum. Mutat. 6, 50.
M 303 1 C W101C 1 TGG-TGC at ntd 303 --> Trp-Cys at codon 101 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Latour (1995) Hum. Mutat. 6, 50.
M 341 1 C I114T 1 ATA-ACA at ntd 341 --> Ile-Thr at codon 114 Dejerine-Sottas syndrome severely reduced nerve conduction velocity AD early Warner (1997) Hum. Mutat. 10, 21.
M 346 1 C N116H 1 AAC-CAC at ntd 346 --> Asn-His at codon 116 Dejerine-Sottas syndrome severely reduced nerve conduction velocity AD early Warner (1997) Hum. Mutat. 10, 21.
M 382 1 A D128N 1 GAC-AAC at ntd 382 --> Asp-Asn at codon 128 Dejerine-Sottas syndrome severely reduced nerve conduction velocity AD early Warner (1997) Hum. Mutat. 10, 21.
M 365 1 G N122S 1 AAT-AGT at ntd 365 --> Asn-Ser at codon 122 Charcot-Marie-Tooth disease type 1B areflexia, severe scoliosis and mildly reduced nerve conduction velocity AD late Blanquet-Grossard (1996) Hum. Mutat. 8, 185.
M 404 1 C I135T 1 ATA-ACA at ntd 404 --> Ile-Thr at codon 135 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Roa (1996) Hum. Mutat. 7, 36.
M 409 1 A G137S 1 GGC-AGC at ntd 409 --> Gly-Ser at codon 137 Charcot-Marie-Tooth disease type 1B ankle weakness, footdrop and minor gait abnormality AD late Roa (1996) Hum. Mutat. 7, 36.
P 600 1 A G/G200 11 GGG-GGA at ntd 600 --> Gly-Gly at codon 200 Charcot-Marie-Tooth disease type 1B - - - Roa (1996) Hum. Mutat. 7, 36.
P 684 1 T S/S228 10 AGC-AGT at ntd 684 --> Ser-Ser at codon 228 Charcot-Marie-Tooth disease type 1B - - - Roa (1996) Hum. Mutat. 7, 36.
M 292 1 A R98S 1 CGC-AGC at ntd 292 --> Arg-Ser at codon 98 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Warner (1996) Neuron 17, 451.
P 684 1 T S/S228 1 AGC-AGT at ntd 684 --> Ser-Ser at codon 228 Charcot-Marie-Tooth disease type 1B - - - Warner (1996) Neuron 17, 451.
M 292 1 T R98C 1 CGC-TGC at ntd 292 --> Arg-Cys at codon 98 Dejerine-Sottas syndrome distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity AD early Warner (1996) Neuron 17, 451.
FD 307 1   307delA 1 1-bp del of A at nucleotide 307 --> frameshift at codon 103 Dejerine-Sottas syndrome distal muscle atrophy and areflexia AD early Warner (1996) Neuron 17, 451.
FD 522 4   522delGCTT 1 4-bp del of GCTT at nucleotides 522-525 --> frameshift at codon 175 Dejerine-Sottas syndrome severe distal muscle atrophy, areflexia and foot deformity AR early Warner (1996) Neuron 17, 451.
N 643 1 T Q215X 1 CAG-TAG at ntd 643 --> Gln-Term at codon 215 Congenital hypomyelination severely reduced nerve conduction velocity AD early Warner (1996) Neuron 17, 451.
D 186 3   186delCTC 1 3-bp del of CTC at nucleotides 186-188 --> del of Ser at codon 63 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Kulkens (1993) Nature Genet. 5, 35.
D 190 3   190delTTC 1 3-bp del of TTC at nucleotides 190-192 --> del of Phe at codon 64 Dejerine-Sottas syndrome distal muscle atrophy, areflexia and foot deformity AR early Ikegami (1996) Biochem. Biophys. Res. Commun. 222, 107.
FI 663 0 GC 663insGC 1 2-bp ins of GC at nucleotide 663 --> frameshift at codon 222 Dejerine-Sottas syndrome severely reduced nerve conduction velocity and sensory loss AD early Rautenstrauss (1994) Hum. Mol. Genet. 3, 1701.
D 697 4   697delAGTG 1 4-bp del of AGTG at nucleotides 697-700 --> del of Ser and frameshift at codon 233 Charcot-Marie-Tooth disease type 1B severely reduced nerve conduction velocity AD early Bellone (1996) Hum. Mutat. 7, 377.
ID 258 8 CCTCT 258indel8bp 1 ACCCTACA-CCTCT at nucleotides 258-265 --> GlnProTyrIle-HisLeuPhe at codon 86-89 Dejerine-Sottas syndrome distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity AD early Silander (1996) Hum. Mutat. 8, 304.
M 233 1 T S78L 1 TCG-TTG at ntd 233 --> Ser-Leu at codon 78 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Bort (1997) Hum. Genet. 99, 746.
M 292 1 T R98C 1 CGC-TGC at ntd 292 --> Arg-Cys at codon 98 Dejerine-Sottas syndrome severely reduced nerve conduction velocity AD early Bort (1997) Hum. Genet. 99, 746.
S 449-1 1 C IVS3-1G->C 1 G-C at nucleotide 449-1 in intron 3 --> aberrant splicing Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Bort (1997) Hum. Genet. 99, 746.
FD 554 1   554delG 1 1-bp del of G at nucleotide 554 --> frameshift at codon 185 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Bort (1997) Hum. Genet. 99, 746.
DU 615 0 GGGAAATTGCACAAGCC 615dup17bp 1 17-bp dup of GGGAAATTGCACAAGCC at nucleotide 615 --> frameshift at codon 205 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Bort (1997) Hum. Genet. 99, 746.
P 600 1 A G/G200 1 GGG-GGA at ntd 600 --> Gly-Gly at codon 200 Charcot-Marie-Tooth disease type 1B - - - Bort (1997) Hum. Genet. 99, 746.
P 684 1 T S/S228 1 AGC-AGT at ntd 684 --> Ser-Ser at codon 228 Charcot-Marie-Tooth disease type 1B - - - Bort (1997) Hum. Genet. 99, 746.
P 731 1 T R/L244 1 CGC-CTC at ntd 731 --> Arg-Leu at codon 244 Charcot-Marie-Tooth disease type 1B - - - Bort (1997) Hum. Genet. 99, 746.
M 291 1 T R98C 1 CGC-TGC at ntd 291 --> Arg-Cys at codon 98 Dejerine-Sottas syndrome distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity AD early Komiyama (1997) J. Neurol. Sci. 149, 103.
M 101 1 G T34I 1 ACC-AUC at ntd 101 --> Thr-Ile at codon 34 Dejerine-Sottas syndrome distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity AD late Gabreels-Festen (1996) Neurology 47, 761.
M 292 1 T R98C 1 CGC-TGC at ntd 292 --> Arg-Cys at codon 98 Dejerine-Sottas syndrome distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity AD early Gabreels-Festen (1996) Neurology 47, 761.
M 293 1 A R98H 1 CGC-CAC at ntd 293 --> Arg-His at codon 98 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Gabreels-Festen (1996) Neurology 47, 761.
M 389 1 G K130R 2 AAA-AGA at ntd 389 --> Lys-Arg at codon 130 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Gabreels-Festen (1996) Neurology 47, 761.
M 403 1 C I135L 1 ATA-CTA at ntd 403 --> Ile -Leu at codon 135 Dejerine-Sottas syndrome distal muscle atrophy, areflexia, foot deformity and severely reduced nerve conduction velocity AD early Gabreels-Festen (1996) Neurology 47, 761.
M 245 1 G Y82C 1 TAT-TGT at ntd 245 --> Tyr-Cys at codon 82 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Himoro (1993) Biochem. Mol. Biol. Int. 31, 169.
M 402 1 A D134E 1 GAC-GAA at ntd 402 --> Asp-Glu at codon 134 Charcot-Marie-Tooth disease type 1B distal muscle atrophy, areflexia and foot deformity AD early Nelis (1994) J. Med. Genet. 31, 811.
P 216 1 G 216A/G 2 polymorphism at ntd 216 Charcot-Marie-Tooth disease type 1B - - - Hayasaka (1993) Nature Genet. 5, 31.
P 216 1 G 216A/G 1 polymorphism at ntd 216 Charcot-Marie-Tooth disease type 1B - - - Hayasaka (1993) Hum. Mol. Genet. 2, 1369.

*1 Abbreviations are as follows: M, Missense; N, Nonsense; P, Polymorphism; D, Deletion; FD, Frameshift Deletion; FI, Frameshift Insertion; ID, Insertion & Deletion; S, Splicing; DU, Duplication.
*2 Abbreviations are as follows: AD, Autosomal Dominant; AR, Autosomal Recessive.







Last updated 2 April 1999