Variant position: 143 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 SLRMIEDAERDGTLKPG-DTI IEPTSGNTGIGLALAAAVRGY
Mouse SLRMIEDAERAGNLKPG-DTI IEPTSGNTGIGLALAAAVKG
Rat SLRMIEDAERAGTLKPG-DTI IEPTSGNTGIGLALAAAVKG
Rabbit SLRMIEDAERAGTLRPG-DTI IEPTSGNTGIGLALAAAVKG
Slime mold GHRMIVDAEESGRIKKG-DTL IEPTSGNTGIGLALTAAIKG
Baker's yeast AKSMVEEAEASGRIHPSRSTL IEPTSGNTGIGLALIGAIKG
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
149 – 149 Pyridoxal phosphate
141 – 145
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Orendac M.; Pronicka E.; Kubalska J.; Janosik M.; Sokolova J.; Linnebank M.; Koch H.G.; Kozich V.;
Hum. Mutat. 23:631-631(2004)
Cited for: VARIANTS CBSD MET-143; ARG-148; LYS-228 AND THR-278; CHARACTERIZATION OF VARIANTS CBSD MET-143 AND ARG-148;
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.