Variant position: 210 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 CLTLYGDGAANQGQIFEAYN MAALWKLPCIFICENNRYGMG
Chimpanzee CLTLYGDGAANQGQIFEAYN MAALWKLPCIFICENNRYGMG
Mouse CLTLYGDGAANQGQIFEAYN MAALWKLPCIFICENNRYGMG
Rat CLTLYGDGAANQGQIFEAYN MAALWKLPCIFICENNRYGMG
Bovine CLTLYGDGAANQGQIFEAYN MAALWKLPCIFICENNRYGMG
Caenorhabditis elegans CVTLYGDGAANQGQLFEATN MAKLWDLPVLFVCENNGFGMG
Slime mold CLAMYGDGAANQGQLFEAFN MASLWKLPVIFICENNKYGMG
Baker's yeast SFTLYGDGASNQGQVFESFN MAKLWNLPVVFCCENNKYGMG
Fission yeast TFALYGDGASNQGQAFEAFN MAKLWGLPVIFACENNKYGMG
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
202 – 213
Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS).
Tripatara A.; Kerr D.S.; Lusk M.M.; Kolli M.; Tan J.; Patel M.S.;
Hum. Mutat. 8:180-182(1996)
Cited for: VARIANTS PDHAD VAL-210 AND ARG-311 DEL;
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