Variant position: 116 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 GKKFGLKCELLAKCEFFNAG GSVKDRISLRMIEDAERDGTL
Mouse SKNAGLKCELLAKCEFFNAG GSVKDRISLRMIEDAERAGNL
Rat SKNAGLKCELLAKCEFFNAG GSVKDRISLRMIEDAERAGTL
Rabbit GKNFGLKCELLAKCEFFNAG GSVKDRISLRMIEDAERAGTL
Slime mold SSD--LECELVAKCEFFNAG GSVKDRIGHRMIVDAEESGRI
Baker's yeast PKALGIKPQIYAKLELYNPG GSIKDRIAKSMVEEAEASGRI
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
119 – 119 N6-(pyridoxal phosphate)lysine
113 – 117
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.
Sperandeo M.P.; Candito M.; Sebastio G.; Rolland M.O.; Turc-Carel C.; Giudicelli H.; Dellamonica P.; Andria G.;
J. Inherit. Metab. Dis. 19:351-356(1996)
Cited for: VARIANTS CBSD ARG-116; THR-278 AND LEU-290;
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