Variant position: 195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 218 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 KPD--------FVGFEIPDKFVVGYALD YNEYFRDLNHVCVISETG---KAK
Chimpanzee KPD--------FVGFEIPDKFVVGYALD YNEYFRDLNHVCV
Mouse RPD--------FVGFEIPDKFVVGYALD YNEYFRDLNHVCV
Rat RPD--------FVGFEIPDKFVVGYALD YNEHFRDLNHVCV
Pig RPD--------FVGFEIPDKFVVGYALD YNEYFRDLNHVCV
Bovine KPD--------FVGFEIPDKFVVGYALD YNEYFRDLNHVCV
Chicken RPD--------FVGFEVPDKFVVGYALD YNEYFRDLNHICV
Slime mold PVK--------YMGFDIPMVFIIGYGLD FAENYRELPYLGE
Baker's yeast PAEMLNDKNRYFAAKTVPDKWYA-YPWE STDIVFHTRMAIE
Fission yeast DKEILD--KYYFTGCNTPDCWIM-YPWE AQDIEEHDSHVAK
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
2 – 218 Hypoxanthine-guanine phosphoribosyltransferase
194 – 194 Magnesium
194 – 194 GMP; via carbonyl oxygen
195 – 197
Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Yamada Y.; Yamada K.; Sonta S.; Wakamatsu N.; Ogasawara N.;
Nucleosides Nucleotides Nucleic Acids 23:1169-1172(2004)
Cited for: VARIANTS LNS PRO-64; PRO-65; GLU-70; CYS-72; GLN-78; PRO-147; GLU-159 AND 107-ASN--SER-110 DEL; VARIANTS GOUT-HPRT ALA-188; VAL-192 AND CYS-195;
Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
Yamada Y.; Nomura N.; Yamada K.; Wakamatsu N.;
Mol. Genet. Metab. 90:70-76(2007)
Cited for: VARIANTS LNS VAL-8 DEL; TYR-28 DEL; PRO-64; PRO-65; GLU-70; CYS-72; GLN-78; PRO-147; GLU-159; VAL-159 INS AND ALA-188; VARIANTS GOUT-HPRT PRO-124; GLY-185; VAL-192 AND CYS-195;
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.