Variant position: 20 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 MATRSPGVVISDDEPGYDL DLFCIPNHYAEDLERVFIPHG
Chimpanzee MATRSPGVVISDDEPGYDL DLFCIPNHYAEDLERVFIPHG
Mouse MPTRSPSVVISDDEPGYDL DLFCIPNHYAEDLEKVFIPHG
Rat MSTLSPSVVISDDEPGYDL DLFCIPNHYAEDLEKVFIPHG
Pig MATRSPSVVISDDEPGYDL DLFCIPNHYAEDLEKVFIPHG
Bovine MAARSPSVVISDDEPGYDL NLFCIPNHYAEDLEKVFIPHG
Chicken MATHSPCIVIGDDEQGYDL DLFCIPKHYADDLEKVYIPHG
Slime mold ---MSREVIFTEKE----- ---------------------
Baker's yeast MSANDKQYISYNNV----- -------------------HQ
Fission yeast -MDPVRLYYSYNDI----- -------------------HK
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 – 1 Removed
2 – 218 Hypoxanthine-guanine phosphoribosyltransferase
2 – 2 N-acetylalanine
19 – 21
Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Yamada Y.; Nomura N.; Yamada K.; Kimura R.; Fukushi D.; Wakamatsu N.; Matsuda Y.; Yamauchi T.; Ueda T.; Hasegawa H.; Nakamura M.; Ichida K.; Kaneko K.; Fujimori S.;
Nucleosides Nucleotides Nucleic Acids 33:218-222(2014)
Cited for: INVOLVEMENT IN LNS; INVOLVEMENT IN GOUT-HPRT; VARIANTS GOUT-HPRT VAL-20; PHE-23 AND ARG-60; CHARACTERIZATION OF VARIANTS GOUT-HPRT VAL-20; PHE-23 AND ARG-60;
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.