Table 2 of Yan, Mol Vis 2008; 14:418-424.


Table 2. Summary of identified mutations in the human connexin 50 gene.

Mutation Amino acid change Population Location Reference
68G>C R23T Iranian NH2-terminus 5
131T>A V44E Indian First transmembrane domain 23
142G>A E48K Pakistani E1 24
191T>G V64G Chinese E1 25
235G>C V79L Indian Second transmembrane domain 27
262C>T P88S English Second transmembrane domain 26
262C>A P88Q English Second transmembrane domain 21
593G>A R198Q Indian E2 23
741T>G I247M Russian the COOH-terminus 28
827C>T S276F Chinese the COOH-terminus This paper