Variant position: 234 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 289 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 ADAVGMSTVPEVIVARHCGL RVFGFSLITN-KVIMDYES--------------LEK
Mouse ADAVGMSTVPEVIVARHCGL RVFGFSLITN-KVVMDYEN--
Rat ADAVGMSTVPEVIVARHCGL RVFGFSLITN-KVVMDYNN--
Bovine ADAVGMSTVPEVIVARHCGL RVFGFSLITN-KVIMDYES--
Drosophila ADLLSMTLCPEAILAKEAGI PYASLGLVTNMECWCAKQP--
Baker's yeast GDAVGMSTVPEVIVARHCGW RVLALSLITN-TCVVDSPASA
Fission yeast ADCVGMSTVPEVVVARHCGI RVLAISLVTN-NVVVEESPSA
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 – 289 Purine nucleoside phosphorylase
219 – 219 Purine nucleoside
220 – 220 Phosphate
243 – 243 Purine nucleoside
243 – 243 Important for substrate specificity
251 – 251 Phosphoserine
243 – 243 N -> A. Reduces catalytic activity.
243 – 243 N -> D. Reduces catalytic activity towards inosine, hypoxanthine, guanosine and guanine. Increases catalytic activity towards adenosine and adenine.
234 – 244
Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.
Aust M.R.; Andrews L.G.; Barrett M.J.; Norby-Slycord C.J.; Markert M.L.;
Am. J. Hum. Genet. 51:763-772(1992)
Cited for: VARIANT SER-51; VARIANTS PNPD GLY-128 AND PRO-234;
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