Variant position: 170 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 ADYIFPAFDQIVNEAAKYRY RSGDLFNCGSLTIRSPWGCVG
Mouse ADYIFPAFDQIVNEAAKYRY RSGDLFNCGSLTIRAPWGCVG
Rat ADYIFPAFDQIVNEAAKYRY RSGDLFNCGSLTIRAPWGCVG
Bovine ADYIFPAFDQIVNEAAKYRY RSGDLFNCGSLTIRSPWGCVG
Slime mold ADYIFPAFDQIVNEAAKYRY RSGGQFDCGSLTIRSPYGAVG
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
167 – 170
Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).
Wang Y.P.; Qi M.L.; Li T.T.; Zhao Y.J.;
Cited for: VARIANTS MSUD1B HIS-170 AND ARG-346;
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