Variant position: 315 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 SDPGVSYRTREEIQEVRSKS DPIMLLKDRMVNSNLASVEEL
Chimpanzee SGPGVSYRTREEIQEVRSKS DPIMLLKDRMVNSNLASVEEL
Mouse SDPGVSYRTREEIQEVRSKS DPIMLLKDRMVNSNLASVEEL
Rat SDPGVSYRTREEIQEVRSKS DPIMLLKDRMVNSNLASVEEL
Bovine SDPGVSYRTREEIQEVRSKS DPIMLLKDRMVNSNLASVEEL
Caenorhabditis elegans SDPGTSYRTREEIQEVRKTR DPITGFKDRIITSSLATEEEL
Slime mold SDPGITYRTREEVNHVRQTR DPIENIRQIILDNKIATEDQL
Baker's yeast SDPGTTYRTRDEIQHMRSKN DPIAGLKMHLIDLGIATEAEV
Fission yeast SDPGTTYRSREEVQKVRAAR DPIEGLKKHIMEWGVANANEL
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
295 – 295 Phosphoserine
300 – 300 Phosphoserine; by PDK1, PDK2, PDK3 and PDK4
301 – 301 Phosphotyrosine
313 – 313 N6-acetyllysine; alternate
313 – 313 N6-succinyllysine; alternate
321 – 321 N6-acetyllysine
300 – 300 S -> A. Abolishes inactivation by phosphorylation; when associated with A-232 and A-293.
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;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.