Variant position: 71 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 RDVMKEM-GGHHIVALCVLKG GYKFFADLLDYIKALNRNSDR
Chimpanzee RDVMKEM-GGHHIVALCVLKG GYKFFADLLDYIKALNRNSD
Mouse RDVMKEM-GGHHIVALCVLKG GYKFFADLLDYIKALNRNSD
Rat RDVMKEM-GGHHIVALCVLKG GYKFFADLLDYIKALNRNSD
Pig RDVMKEM-GGHHIVALCVLKG GYKFFADLLDYIKALNRNSD
Bovine RDVMKEM-GGHHIVALCVLKG GYKFFADLLDYIKALNRNSD
Dog RDVMKEM-GGHHIVALCVLKG GYKFFADLLDYIKALNRNSD
Chicken REIMKGM-GGHHIVALCVLKG GYKFFADLLDYIKALNRNSD
Slime mold RQITQDYKDSKNLVLVGILKG SFVFMSDLVRSIHLPNTN--
Baker's yeast KNFKPDL-----IIAIGG--G GFIPARILRTFLKEPGVPTI
Fission yeast ETFRPDV-----IIAIGG--G GFIPARILRTFLKKKGSKNI
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
69 – 69 GMP
69 – 69 K -> A. Reduced affinity for hypoxanthine, phosphoribosylpyrophosphate and IMP. Reduced catalytic activity.
69 – 71
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
Fujimori S.; Davidson B.L.; Kelley W.N.; Palella T.D.;
J. Clin. Invest. 83:11-13(1989)
Cited for: VARIANT LNS YALE ARG-71;
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.