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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21549: Variant p.Gly161Cys

Alanine--glyoxylate aminotransferase
Gene: AGXT
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Variant information Variant position: help 161
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Cysteine (C) at position 161 (G161C, p.Gly161Cys).
Physico-chemical properties: help Change from glycine (G) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In HP1; associated in cis with L-11 and M-340; results in loss of alanine--glyoxylate aminotransferase activity; reduced expression levels; decreased protein stability; protein aggregation seen in the cytosol with a decreased aggregation propensity in the presence of pyridoxal phosphate; reduced peroxisomal localization.
Other resources: help


Sequence information Variant position: help 161
Protein sequence length: help 392
Location on the sequence: help EGLAQHKPVLLFLTHGESST G VLQPLDGFGELCHRYKCLLL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 392 Alanine--glyoxylate aminotransferase



Literature citations
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; Gly161 mutations associated with primary hyperoxaluria type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.
Oppici E.; Roncador A.; Montioli R.; Bianconi S.; Cellini B.;
Biochim. Biophys. Acta 1832:2277-2288(2013)
Cited for: CHARACTERIZATION OF VARIANTS HP1 ARG-161; CYS-161 AND SER-161; FUNCTION; CATALYTIC ACTIVITY; SUBUNIT; SUBCELLULAR LOCATION;
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.