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Three new mutations of the pyruvate dehydrogenase alpha subunit: A point mutation (M181V), 3 bp deletion (‐R282), and 16 bp insertion/frameshift (K358SVS→TVDQS)
Author(s) -
Tripatara Amporn,
Kerr Douglas S.,
Lusk Marilyn M.,
Kolli Madhu,
Tan Jie,
Patel Mulchand S.
Publication year - 1996
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(1996)8:2<180::aid-humu11>3.0.co;2-z
Subject(s) - frameshift mutation , biology , point mutation , genetics , g alpha subunit , mutation , protein subunit , pyruvate dehydrogenase complex , microbiology and biotechnology , alpha (finance) , gene , biochemistry , enzyme , construct validity , nursing , patient satisfaction , medicine
Three novel mutations in the coding region of E1 alpha gene were found in three PDC-deficient male patients, including a missense mutation (M181V), a 3 bp deletion (AGA, corresponding to R282), and a 16 bp insertion (CAGTGGATCAAGTTTA), causing a frameshift starting with lysine 358 and resulting in decrease of both E1 subunits.