Variant position: 355 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 551 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 ARMLIAQEGLLCGGSAGSTV AVAVKAAQ---ELQEGQRCVVILP
Mouse ARMLIAQEGLLCGGSSGSAM AVAVKAAR---ELQEGQRCVV
Rat ARMLISQEGLLCGGSSGSAM AVAVKAAQ---ELKEGQRCVV
Rabbit ARMLIAQEGLLCGGSAGSAV AVAVKAAQ---ELQEGQRCVV
Slime mold ARRLIKEEGLLCGGSSGSAM VGALLAAK---QLKKGQRCVV
Baker's yeast ARQLISNEGVLVGGSSGSAF TAVVKYCEDHPELTEDDVIVA
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
1 – 551 Cystathionine beta-synthase
349 – 349 Pyridoxal phosphate
348 – 360
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
Gallagher P.M.; Naughten E.; Hanson N.Q.; Schwichtenberg K.; Bignell M.; Yuan M.; Ward P.; Yap S.; Whitehead A.S.; Tsai M.Y.;
Mol. Genet. Metab. 65:298-302(1998)
Cited for: VARIANTS CBSD PRO-101; LYS-228; MET-262; THR-278; SER-307 AND PRO-355;
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