Variant position: 115 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 318 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 ARQDKKDKSRAPISAKLVAN MLSVAGADHIITMDLHASQIQ
Mouse ARQDKKDKSRAPISAKLVAN MLSVAGADHIITMDLHASQIQ
Rat ARQDKKDKSRAPISAKLVAN MLSVAGADHIITMDLHASQIQ
Bovine ARQDKKDKSRAPISAKLVAN MLSVAGADHIITMDLHASQIQ
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 – 318 Ribose-phosphate pyrophosphokinase 1
128 – 128 Magnesium
130 – 130 Magnesium
130 – 130 ATP
132 – 132 S -> A. Reduces catalytic activity.
132 – 132 S -> F. No effect on catalytic activity.
108 – 119
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Kim H.-J.; Sohn K.-M.; Shy M.E.; Krajewski K.M.; Hwang M.; Park J.-H.; Jang S.-Y.; Won H.-H.; Choi B.-O.; Hong S.H.; Kim B.-J.; Suh Y.-L.; Ki C.-S.; Lee S.-Y.; Kim S.-H.; Kim J.-W.;
Am. J. Hum. Genet. 81:552-558(2007)
Cited for: VARIANTS CMTX5 ASP-43 AND THR-115;
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