Variant position: 58 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 AKEPLWIRPDAPSRCTWQLG RPASESPHHHTAPAKSPK--ILP
Mouse ---RVWIRPDTPSRCTWQLG RAMADSPHYHTVLTKSPK--I
Rat ---RVWISPDTPSRCTWQLG RPMADSPHYHTVPTKSPK--I
Rabbit APERVWIRPDVPSRCTWELG RPVADSPHQHAALAKSPK--I
Slime mold -----MSAPEGPSKCTWT-P NTTENTPH---TTRRTPKKLI
Baker's yeast ----------------MTKS EQQADSRH-------------
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
52 – 52 Iron (heme axial ligand)
65 – 65 Iron (heme axial ligand)
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.
de Franchis R.; Kraus E.; Kozich V.; Sebastio G.; Kraus J.P.;
Hum. Mutat. 13:453-457(1999)
Cited for: VARIANTS CBSD TRP-58; VAL-126; LYS-302 AND CYS-336;
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