T>C transition in codon 72 (TCG-->CCG), S72P, a putative hotspot in PMP22.
Ekici
A B
AB
Institute of Human Genetics, Erlangen, Germany.
Park
O
O
Korinthenberg
R
R
Grehl
H
H
Rautenstrauss
B
B
D019943:Amino Acid Substitution / Q000235:genetics*; D003062:Codon / Q000235:genetics*; D003596:Cytosine; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D009185:Myelin Proteins / Q000235:genetics*; D011392:Proline / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D013941:Thymine
D003062:Codon; D009185:Myelin Proteins; C073687:PMP22 protein, human; D012694:Serine; D003596:Cytosine; D011392:Proline; D013941:Thymine