Variant position: 435 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 QELGLSAPLTVLPTITCGHT IEILREKGFDQAPVVDEAGVI
Mouse QELSLSAPLTVLPTVTCEDT IAILREKGFDQAPVVNESGAI
Rat QELSLSAPLTVLPTVTCEHT IAILREKGFDQAPVVNESGAI
Rabbit QELSLSVPLTVLPGVTCSDT IDILRGKGFDQAPVVDETGEI
Slime mold KDLTLPKPITISATTTCAAA VQLLQQYGFDQLPVVSESKKV
Baker's yeast KDLHLKPVVSVKETAKVTDV IKILKDNGFDQLPVLTEDGKL
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.
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Kozich V.; Sokolova J.; Klatovska V.; Krijt J.; Janosik M.; Jelinek K.; Kraus J.P.;
Hum. Mutat. 31:809-819(2010)
Cited for: CHARACTERIZATION OF VARIANTS CBSD LEU-49; ARG-65; ARG-78; ASN-102; VAL-114; GLN-125; LYS-144; ARG-148; TYR-165; LYS-176; ALA-180; MET-191; LYS-228; ARG-262; LYS-266; THR-278; LYS-302; ARG-305; SER-307; CYS-369; LEU-422; THR-435; GLN-439; ASN-444; LEU-466 AND SER-539; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; ACTIVITY REGULATION; SUBUNIT;
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Maclean K.N.; Gaustadnes M.; Oliveriusova J.; Janosik M.; Kraus E.; Kozich V.; Kery V.; Skovby F.; Ruediger N.; Ingerslev J.; Stabler S.P.; Allen R.H.; Kraus J.P.;
Hum. Mutat. 19:641-655(2002)
Cited for: VARIANTS CBSD ARG-85; THR-278; LEU-422; THR-435; ASN-444 AND LEU-466; CHARACTERIZATION OF VARIANTS CBSD ARG-85; LEU-422; THR-435 AND LEU-466;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.