Variant position: 95 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 336 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 LIKGGAAKLQIITDFDMTLS RFSYKGKRCPTCHNIIDNCKL
Mouse LIKGGAAKLQIITDFDMTLS RFSYNGKRCPTCHNIIDNCKL
Chicken LIKGGAAKLQIITDFDMTLS RFSYNGKRCPTCHNIIDNSKL
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 – 336 Cytosolic 5'-nucleotidase 3A
88 – 88 Nucleophile
90 – 90 Proton donor
88 – 88 Magnesium
90 – 90 Magnesium; via carbonyl oxygen
88 – 88 D -> N. Loss of nucleotidase and phosphotransferase activity.
89 – 89 F -> A. Almost complete loss of nucleotidase and phosphotransferase activity.
90 – 90 D -> N. Loss of nucleotidase and phosphotransferase activity.
Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression.
Dos Santos A.; Dantas L.E.; Traina F.; Albuquerque D.M.; Chaim E.A.; Saad S.T.;
Blood Cells Mol. Dis. 53:246-252(2014)
Cited for: VARIANT P5ND GLY-95;
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