Sequence information
Variant position: 438 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:
AQLRKQQESLARHLQTYGEH
Y PLDHFDK
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 AQLRKQQESLARHLQTYGEHY PLDHFDK-------
Chimpanzee AQLRKQQESLARHLQTYGEHY PLDHFDK
Mouse AQLRRQQESLARHLQTYGEHY PLDHFEK
Bovine AQLRKQQESLARHLQTYGEHY PLDHFEK
Caenorhabditis elegans LRLRRQRDELDAHVAEYKEHY PMLETLQ
Slime mold PNLIEQQKELIEHLKLYPDEY PLNQFAD
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
Chain
46 – 445
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
Literature citations
Structure of the gene encoding the entire mature E1 alpha subunit of human branched-chain alpha-keto acid dehydrogenase complex.
Dariush N.; Fisher C.W.; Cox R.P.; Chuang D.T.;
FEBS Lett. 284:34-38(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 3-445; VARIANT MSUD1A ASN-438;
Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
Zhang B.; Edenberg H.J.; Crabb D.W.; Harris R.A.;
J. Clin. Invest. 83:1425-1429(1989)
Cited for: VARIANT MSUD1A ASN-438;
A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
Matsuda I.; Nobukuni Y.; Mitsubuchi H.; Indo Y.; Endo F.; Asaka J.; Harada A.;
Biochem. Biophys. Res. Commun. 172:646-651(1990)
Cited for: VARIANT MSUD1A ASN-438;
Occurrence of a Tyr393-->Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
Fisher C.R.; Fisher C.W.; Chuang D.T.; Cox R.P.;
Am. J. Hum. Genet. 49:429-434(1991)
Cited for: VARIANT MSUD1A ASN-438;
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
Fisher C.R.; Chuang J.L.; Cox R.P.; Fisher C.W.; Star R.A.; Chuang D.T.;
J. Clin. Invest. 88:1034-1037(1991)
Cited for: VARIANT MSUD1A ASN-438;
Disclaimer:
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.