Variant position: 88 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 TAPAKSPK--ILPDILKKIGDT PMVRINKIGKKFGLKCELLAK
Mouse TVLTKSPK--ILPDILRKIGNT PMVRINKISKNAGLKCELL
Rat TVPTKSPK--ILPDILRKIGNT PMVRINRISKNAGLKCELL
Rabbit AALAKSPK--ILPDILQKIGDT PMVRINKIGKNFGLKCELL
Slime mold -TTRRTPKKLIMDNILDNIGGT PLVRVNKVSSD--LECELV
Baker's yeast -------------NVIDLVGNT PLIALKKLPKALGIKPQIY
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
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Sebastio G.; Sperandeo M.P.; Panico M.; de Franchis R.; Kraus J.P.; Andria G.;
Am. J. Hum. Genet. 56:1324-1333(1995)
Cited for: VARIANTS CBSD SER-88; GLN-125 AND MET-257;
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