Variant position: 125 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 LLAKCEFFNAGGSVKDRISL RMIEDAERDGTLKPG-DTIIEP
Mouse LLAKCEFFNAGGSVKDRISL RMIEDAERAGNLKPG-DTIIE
Rat LLAKCEFFNAGGSVKDRISL RMIEDAERAGTLKPG-DTIIE
Rabbit LLAKCEFFNAGGSVKDRISL RMIEDAERAGTLRPG-DTIIE
Slime mold LVAKCEFFNAGGSVKDRIGH RMIVDAEESGRIKKG-DTLIE
Baker's yeast IYAKLELYNPGGSIKDRIAK SMVEEAEASGRIHPSRSTLIE
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
119 – 132
Spectrum of CBS mutations in 16 homocystinuric patients from the iberian peninsula: high prevalence of T191M and absence of I278T or G307S.
Urreizti R.; Balcells S.; Rodes M.; Vilarinho L.; Baldellou A.; Couce M.L.; Munoz C.; Campistol J.; Pinto X.; Vilaseca M.A.; Grinberg D.;
Hum. Mutat. 22:103-103(2003)
Cited for: VARIANTS CBSD TRP-125; MET-191; TYR-275; CYS-336; PRO-338; ASN-349; GLN-379 AND PRO-456;
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
Urreizti R.; Asteggiano C.; Cozar M.; Frank N.; Vilaseca M.A.; Grinberg D.; Balcells S.;
Hum. Mutat. 27:211-211(2006)
Cited for: CHARACTERIZATION OF VARIANTS CBSD TRP-125; ARG-148; VAL-173; MET-191; THR-226; TYR-275; CYS-336; HIS-336; PRO-338; ASN-349; GLN-379 AND PRO-456; CHARACTERIZATION OF VARIANT GLN-548;
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.