Variant position: 229 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 VLEEVIRQAGVYHPNVKVVS NFMDFDETGVLKGFKGELIHV
Mouse VLEEVIRQAGVYHSNVKVVS NFMDFDENGVLKGFKGELIHV
Chicken ILEEVIHQAGVYHSNVKVVS NFMDFDENGILKGFKGELIHV
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
232 – 232 D -> N. No effect on nucleotidase and phosphotransferase activity.
233 – 233 F -> A. Almost complete loss of nucleotidase and phosphotransferase activity.
234 – 234 D -> N. No effect on nucleotidase and phosphotransferase activity.
224 – 229
Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia.
Chiarelli L.R.; Bianchi P.; Fermo E.; Galizzi A.; Iadarola P.; Mattevi A.; Zanella A.; Valentini G.;
Cited for: CHARACTERIZATION OF P5ND VAL-137; PRO-181; SER-229 AND ARG-280;
Evidence for essential catalytic determinants for human erythrocyte pyrimidine 5'-nucleotidase.
Amici A.; Ciccioli K.; Naponelli V.; Raffaelli N.; Magni G.;
Cell. Mol. Life Sci. 62:1613-1620(2005)
Cited for: FUNCTION; BIOPHYSICOCHEMICAL PROPERTIES; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS P5ND SER-229 AND ARG-280; MUTAGENESIS OF ASP-88; PHE-89; ASP-90; GLU-135; ASP-232; PHE-233 AND ASP-234;
Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.
Bianchi P.; Fermo E.; Alfinito F.; Vercellati C.; Baserga M.; Ferraro F.; Guzzo I.; Rotoli B.; Zanella A.;
Br. J. Haematol. 122:847-851(2003)
Cited for: VARIANT P5ND SER-229;
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