Variant position: 253 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:
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 RKTKPFSFYLDIKWLANFWG----- CDDQ---------PRMYHHTIPVISLYSLR
Mouse RKTKPVSFYTDITYLAKLWG----- CEGE---------TRV
Rat RKTKPVSFYTDITYLSKLWG----- CEGK---------TRV
Rabbit RKTKPFSFYMDVQLLANIWG----- CDGK---------PRM
Cat RKTKPVSFYLDMKWLANIWG----- CDGK---------PRI
Slime mold RKTPVANWYLDCNLLGGYWCPEFNL ADGTIAKEEKSTIPKR
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 – 392 Alanine--glyoxylate aminotransferase
234 – 234 N6-acetyllysine
Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria.
Monico C.G.; Olson J.B.; Milliner D.S.;
Am. J. Nephrol. 25:183-188(2005)
Cited for: VARIANTS HP1 VAL-139 DEL; ARG-156; LEU-158; ARG-190; GLU-201; LEU-233; THR-244 AND ARG-253; VARIANT ASN-9;
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.
Williams E.; Rumsby G.;
Clin. Chem. 53:1216-1221(2007)
Cited for: VARIANTS HP1 CYS-36; ARG-41; GLU-41; PRO-150; ILE-152; ARG-156; LEU-158; CYS-161; SER-161; PRO-166; ARG-170; TYR-173; CYS-233; HIS-233; THR-244 AND ARG-253; VARIANT ASN-9; CHARACTERIZATION OF VARIANTS HP1 CYS-36; GLU-41; PRO-150; ARG-156; LEU-158; CYS-161; SER-161; PRO-166; TYR-173; CYS-233; HIS-233 AND ARG-253; CHARACTERIZATION OF VARIANT ASN-9;
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.