Variant position: 194 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 YKPD--------FVGFEIPDKFVVGYAL DYNEYFRDLNHVCVISETG---KA
Chimpanzee YKPD--------FVGFEIPDKFVVGYAL DYNEYFRDLNHVC
Mouse YRPD--------FVGFEIPDKFVVGYAL DYNEYFRDLNHVC
Rat YRPD--------FVGFEIPDKFVVGYAL DYNEHFRDLNHVC
Pig YRPD--------FVGFEIPDKFVVGYAL DYNEYFRDLNHVC
Bovine YKPD--------FVGFEIPDKFVVGYAL DYNEYFRDLNHVC
Dog YKPD--------FVGFEIPDKFVVGYAL DYNEYFRDLNHVC
Chicken YRPD--------FVGFEVPDKFVVGYAL DYNEYFRDLNHIC
Slime mold VPVK--------YMGFDIPMVFIIGYGL DFAENYRELPYLG
Baker's yeast LPAEMLNDKNRYFAAKTVPDKWYA-YPW ESTDIVFHTRMAI
Fission yeast LDKEILD--KYYFTGCNTPDCWIM-YPW EAQDIEEHDSHVA
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
Sequence, expression and characterization of HPRTMoose Jaw: a point mutation resulting in cooperativity and decreased substrate affinities.
Lightfoot T.; Lewkonia R.M.; Snyder F.F.;
Hum. Mol. Genet. 3:1377-1381(1994)
Cited for: VARIANT GOUT-HPRT MOOSE JAW GLU-194; NUCLEOTIDE SEQUENCE;
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.