Variant position: 206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 392 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 WGCVGHGALYHSQSPEAFFA HCPGIKVVIPRSPFQAKGLLL
Mouse WGCVGHGALYHSQSPEAFFA HCPGIKVVIPRSPFQAKGLLL
Rat WGCVGHGALYHSQSPEAFFA HCPGIKVVIPRSPFQAKGLLL
Bovine WGCVGHGALYHSQSPEAFFA HCPGIKVVVPRSPFQAKGLLL
Slime mold YGAVGHGGHYHSQSPESYFG HTPGLKVVIPSTPIEAKGLLL
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
51 – 392 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
Nobukuni Y.; Mitsubuchi H.; Hayashida Y.; Ohta K.; Indo Y.; Ichiba Y.; Endo F.; Matsuda I.;
Biochim. Biophys. Acta 1225:64-70(1993)
Cited for: VARIANT MSUD1B ARG-206;
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