Variant position: 113 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 LCDGQEACCVGLEAGINPTD HLITAYRAHGFTFTRGLSVRE
Chimpanzee LCDGQEACCVGLEAGINPTD HLITAYRAHGFTFTRGLSVRE
Mouse LCDGQEACCVGLEAGINPTD HLITAYRAHGFTFTRGLPVRA
Rat LCDGQEACCVGLEAGINPTD HLITAYRAHGFTFNRGHAVRA
Bovine LCDGQEACCVGLEAGINPTD HLITAYRAHGFTFTRGLSVRE
Caenorhabditis elegans LYSGQEACAVGMKAAMTEGD AVITAYRCHGWTWLLGATVTE
Slime mold LYTGQEAVCAGLESAITKDD HIITAYRDHTYMLSRGATPEE
Baker's yeast LSVGQEAIAVGIENAITKLD SIITSYRCHGFTFMRGASVKA
Fission yeast LSIGQEAVAAGIEGAITLDD SIITSYRCHGFAYTRGLSIRS
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
96 – 96 G -> GQFLLPLT. In isoform 2.
112 – 115
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Lissens W.; de Meirleir L.; Seneca S.; Benelli C.; Marsac C.; Poll-The B.T.; Briones P.; Ruitenbeek W.; van Diggelen O.; Chaigne D.; Ramaekers V.; Liebaers I.;
Hum. Mutat. 7:46-51(1996)
Cited for: VARIANTS PDHAD CYS-72; ASP-113; ARG-162; GLY-263; HIS-288 AND CYS-302;
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.