Variant position: 139 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 KDRISLRMIEDAERDGTLKP G-DTIIEPTSGNTGIGLALAAA
Mouse KDRISLRMIEDAERAGNLKP G-DTIIEPTSGNTGIGLALAA
Rat KDRISLRMIEDAERAGTLKP G-DTIIEPTSGNTGIGLALAA
Rabbit KDRISLRMIEDAERAGTLRP G-DTIIEPTSGNTGIGLALAA
Slime mold KDRIGHRMIVDAEESGRIKK G-DTLIEPTSGNTGIGLALTA
Baker's yeast KDRIAKSMVEEAEASGRIHP SRSTLIEPTSGNTGIGLALIG
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
149 – 149 Pyridoxal phosphate
119 – 119 N6-(pyridoxal phosphate)lysine
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
Shih V.E.; Fringer J.M.; Mandell R.; Kraus J.P.; Berry G.T.; Heidenreich R.A.; Korson M.S.; Levy H.L.; Ramesh V.;
Am. J. Hum. Genet. 57:34-39(1995)
Cited for: VARIANTS CBSD ARG-139; LYS-144 AND THR-278;
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