Variant position: 217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 390 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human GAANQGQIFEAYNMAALWKL PCIFICENNRYGMGTSVERAA
Chimpanzee GAANQGQIFEAYNMAALWKL PCIFICENNRYGMGTSVERAA
Mouse GAANQGQIFEAYNMAALWKL PCIFICENNRYGMGTSVERAA
Rat GAANQGQIFEAYNMAALWKL PCIFICENNRYGMGTSVERAA
Bovine GAANQGQIFEAYNMAALWKL PCIFICENNRYGMGTSVERAA
Caenorhabditis elegans GAANQGQLFEATNMAKLWDL PVLFVCENNGFGMGTTAERSS
Slime mold GAANQGQLFEAFNMASLWKL PVIFICENNKYGMGTSQKRST
Baker's yeast GASNQGQVFESFNMAKLWNL PVVFCCENNKYGMGTAASRSS
Fission yeast GASNQGQAFEAFNMAKLWGL PVIFACENNKYGMGTSAERSS
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
31 – 390 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
232 – 232 Phosphoserine; by PDK1
232 – 232 S -> A. Abolishes inactivation by phosphorylation; when associated with A-293 and A-300.
Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
Hemalatha S.G.; Kerr D.S.; Wexler I.D.; Lusk M.M.; Kaung M.; Du Y.; Kolli M.; Schelper R.L.; Patel M.S.;
Hum. Mol. Genet. 4:315-318(1995)
Cited for: VARIANT PDHAD LEU-217;
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