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C283Y mutation and other C‐terminal nucleotide changes in the γ‐sarcoglycan gene in the Bulgarian Gypsy population
Author(s) -
Todorova Albena,
Ashikov Angel,
Beltcheva Olga,
Tournev Ivailo,
Kremensky Ivo
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200005)15:5<479::aid-humu10>3.0.co;2-#
Subject(s) - biology , genetics , gene , mutation , bulgarian , terminal (telecommunication) , population , nucleotide , demography , telecommunications , philosophy , linguistics , sociology , computer science
The authors wish to correct a mistake in the nucleotide numbering of the two gamma‐sarcoglycan gene polymorphisms: 984G→A (S287N) and 1049C→G at the 3′UTR. In this article, the nucleotides were numbered beginining with the first nucleotide of the cDNA sequence U34976 at GenBank. According to the nomenclature of the mutations and polymorphisms in the gamma‐sarcoglycan gene (McNally et al., 1996a. Hum Mol Genet 5:1841–1847 and McNally et al., 1996b. Am J Hum Genet 59:1040–1047), the numbering of nucleotides should begin from the first nucleotide of exon 2. This results in a 124bp difference of the nucleotide numbers. The precise numbers of the published polymorphisms are: exon 8 is 860G→A (S287N), instead of 984G→A, and 925C→G at the 3′UTR, instead of 1049C→G.