Variant position: 346 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 LISHEAPLTGGFASEISSTV QEECFLNLEAPISRVCGYDTP
Mouse LISHEAPLTGGFASEISSTV QEECFLNLEAPISRVCGYDTP
Rat LISHEAPLTGGFASEISSTV QEECFLNLEAPISRVCGYDTP
Bovine LVSHEAPLTGGFASEISSTV QEECFLNLEAPISRVCGYDTP
Slime mold VISHEAPKTGGWAAEISATI QERCFLHLEAPIQRVCGYDTP
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
219 – 392 Missing. In isoform 2.
337 – 349
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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