Variant position: 220 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 RHFVTISSPLATQIPQAVGA AYAAKRA-NANRVVICYFGEGA
Chimpanzee RHFVTISSPLATQIPQAVGA AYAAKRA-NANRVVICYFGEG
Mouse RHFVTISSPLATQIPQAVGA AYAAKRA-NANRIVICYFGEG
Bovine RHFVTISSPLATQIPQAVGA AYAAKRA-NANRVVICYFGEG
Caenorhabditis elegans RNFVTISSPLTTQLPQAVGS AYAFKQQKDNNRIAVVYFGDG
Slime mold INLQTISSPLTTQLPQAVGS SYAQKLA-GEKNCTIVYFGEG
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.
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Park H.D.; Lee D.H.; Hong Y.H.; Kang D.H.; Lee Y.K.; Song J.; Lee S.Y.; Kim J.W.; Ki C.S.; Lee Y.W.;
Ann. Clin. Lab. Sci. 41:167-173(2011)
Cited for: VARIANTS MSUD1A MET-211; VAL-220; CYS-346; LYS-PRO-403 INS AND 427-LEU-ALA-428 DELINS PRO;
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