Variant position: 370 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 AGSTVAVAVKAAQ---ELQEGQR CVVILPDSVRNYMTKFLSDRW
Mouse SGSAMAVAVKAAR---ELQEGQR CVVILPDSVRNYMSKFLS
Rat SGSAMAVAVKAAQ---ELKEGQR CVVILPDSVRNYMSKFLS
Rabbit AGSAVAVAVKAAQ---ELQEGQR CVVILPDSVRNYMSKFLS
Slime mold SGSAMVGALLAAK---QLKKGQR CVVLLADSIRNYMTKHLN
Baker's yeast SGSAFTAVVKYCEDHPELTEDDV IVAIFPDSIRSYLTKFVD
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
369 – 374
Two novel mutations in the cystathionine beta-synthase gene of homocystinuric patients.
Tsai M.Y.; Wong P.W.K.; Garg U.; Hanson N.Q.; Schwichtenberg K.;
Mol. Diagn. 2:129-133(1997)
Cited for: VARIANTS CBSD TYR-370 AND GLN-439;
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