Variant position: 290 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 445 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 AISTPTSEQYRGDGIAARGP- GYGIMSIRVDGNDVFAVYNAT
Chimpanzee AISTPTSEQYRGDGIAARGP- GYGIMSIRVDGNDVFAVYNA
Mouse AISTPTSEQYRGDGIAARGP- GYGIKSIRVDGNDVFAVYNA
Bovine AISTPTSEQYRGDGIAARGP- GYGILSIRVDGNDVFAVYNA
Caenorhabditis elegans AISTPTSEQYGGDGIAGKGP- AYGLHTIRVDGNDLLAVYNA
Slime mold AISTPSKEQYKGDGIAGRGPN GYGMKTIRVDGNDIWAVYNV
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
46 – 445 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
289 – 291
Molecular and biochemical basis of intermediate maple syrup urine disease: occurrence of homozygous G245R and F364C mutations at the E1-alpha locus of Hispanic-Mexican patients.
Chuang J.L.; Davie J.R.; Chinsky J.M.; Wynn R.M.; Cox R.P.; Chuang D.T.;
J. Clin. Invest. 95:954-963(1995)
Cited for: VARIANTS MSUD1A ARG-290 AND CYS-409; CATALYTIC ACTIVITY; FUNCTION;
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.