Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site.
Oterino
A
A
Hospital Nuestra Señora La Candelaria, Santa Cruz de Tenerife, Spain.
Montón
F I
FI
Cabrera
V M
VM
Pinto
F
F
Gonzalez
A
A
Lavilla
N R
NR
D001120:Arginine; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000378:metabolism; D017630:Connexins / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D014364:Tryptophan; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
D001120:Arginine; D017630:Connexins; D017931:DNA Primers; D014364:Tryptophan; D000097002:Gap Junction beta-1 Protein