Sequence information
Variant position: 195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 392 The length of the canonical sequence.
Location on the sequence:
RYKCLLLVDSVASLGGTPLY
M DRQGIDILYSGSQKALNAPP
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 RYKCLLLVDSVASLGGTPLYM DRQGIDILYSGSQKALNAPP
Mouse RYQCLLLVDSVASLGGVPIYM DQQGIDIMYSSSQKVLNAPP
Rat RYQCLLLVDSVASLGGVPIYM DQQGIDILYSGSQKVLNAPP
Rabbit RYKCLLLVDSVASLGGAPIYM DQQGIDVLYSGSQKALNAPP
Cat RYNCLLLVDSVASLCGTPIYM DQQGIDVLYSGSQKVLNSPP
Slime mold KYNCLLMVDCVAALGGVPVFV DDWKIDACYTGTQKCLSGPP
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
Chain
1 – 392
Serine--pyruvate aminotransferase
Modified residue
209 – 209
N6-(pyridoxal phosphate)lysine
Mutagenesis
209 – 209
K -> R. Affects pyridoxal phosphate binding; loss of alanine--glyoxylate aminotransferase activity.
Turn
195 – 199
Literature citations
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
Frishberg Y.; Rinat C.; Shalata A.; Khatib I.; Feinstein S.; Becker-Cohen R.; Weismann I.; Wanders R.J.A.; Rumsby G.; Roels F.; Mandel H.;
Am. J. Nephrol. 25:269-275(2005)
Cited for: VARIANTS HP1 ARG-41; ARG-108; ARG-156; ARG-190; ARG-195; HIS-243; THR-244; MET-279; THR-287; CYS-289 AND PRO-298; VARIANT ASN-9;
Disclaimer:
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.