Variant position: 167 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 KGKGGSMHMYAKNFYGGNGI VGAQVPLGAGIALACKYNGKD
Chimpanzee KGKGGSMHMYAKNFYGGNGI VGAQVPLGAGIALACKYNGKD
Mouse KGKGGSMHMYAKNFYGGNGI VGAQVPLGAGIALACKYNGKD
Rat KGKGGSMHMYAKNFYGGNGI VGAQVPLGAGIALACKYNGKD
Bovine KGKGGSMHMYAKNFYGGNGI VGAQVPLGAGIALACKYNGKD
Caenorhabditis elegans HGKGGSMHMYTKNFYGGNGI VGAQQPLGAGVALAMKYREQK
Slime mold KGKGGSMHMFTKNFYGGNGI VGAQCPLGAGIAFAQKYNKTG
Baker's yeast YGKGGSMHLYAPGFYGGNGI VGAQVPLGAGLAFAHQYKNED
Fission yeast KGKGGSMHIFAKNFYGGNGI VGAQIPLGAGIGFAQKYLEKP
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
167 – 169
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
Chun K.; McKay N.; Petrova-Benedict R.; Robinson B.H.;
Hum. Mol. Genet. 2:449-454(1993)
Cited for: VARIANTS PDHAD MET-167; THR-199; ALA-231; GLY-263 AND LEU-292;
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