Variant position: 190 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 PLELFMAQCYGNISDLGKGR QMPVHYGCKERHFVTISSPLA
Chimpanzee PLELFMAQCYGNISDLGKGR QMPVHYGCKERHFVTISSPLA
Mouse PLELFMSQCYGNVNDPGKGR QMPVHYGCKERHFVTISSPLA
Bovine PLELFMAQCYGNVSDLGKGR QMPVHYGCRERHFVTISSPLA
Caenorhabditis elegans TMENFMNQCYGNADDLGKGR QMPMHFGTKERNFVTISSPLT
Slime mold TINDIINQCCTNEHDLGKGR QMPMHFGSRKINLQTISSPLT
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
206 – 206 Potassium
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: VARIANTS MSUD1A TRP-159; LYS-190; THR-253 AND THR-326;
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