Variant position: 243 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 ENNRYGMGTSVERAAASTDY YKRGDFIPGLRVDGMDILCVR
Chimpanzee ENNRYGMGTSVERAAASTDY YKRGDFIPGLRVDGMDILCVR
Mouse ENNRYGMGTSVERAAASTDY YKRGDFIPGLRVDGMDILCVR
Rat ENNRYGMGTSVERAAASTDY YKRGDFIPGLRVDGMDILCVR
Bovine ENNRYGMGTSVERAAASTDY YKRGDFIPGLRVDGMDILCVR
Caenorhabditis elegans ENNGFGMGTTAERSSASTEY YTRGDYVPGIWVDGMDILAVR
Slime mold ENNKYGMGTSQKRSTAGHDF YTRGHYVAGLKVDGMDVFAVK
Baker's yeast ENNKYGMGTAASRSSAMTEY FKRGQYIPGLKVNGMDILAVY
Fission yeast ENNKYGMGTSAERSSAMTEF YKRGQYIPGLLVNGMDVLAVL
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
244 – 244 N6-acetyllysine; alternate
244 – 244 N6-succinyllysine; alternate
232 – 232 S -> A. Abolishes inactivation by phosphorylation; when associated with A-293 and A-300.
242 – 244
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
Matthews P.M.; Brown R.M.; Otero L.J.; Marchington D.R.; LeGris M.; Howes R.; Meadows L.S.; Shevell M.; Scriver C.R.; Brown G.K.;
Cited for: VARIANTS PDHAD ASN-243; ASN-315 AND HIS-378; VARIANT LEU-282;
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