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UniProtKB/Swiss-Prot Q9H0P0: Variant p.Asn229Ser

Cytosolic 5'-nucleotidase 3A
Gene: NT5C3A
Variant information

Variant position:  229
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Asparagine (N) to Serine (S) at position 229 (N229S, p.Asn229Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (N) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  P5N deficiency (P5ND) [MIM:266120]: Autosomal recessive condition causing hemolytic anemia characterized by marked basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. It is implicated in the anemia of lead poisoning and is possibly associated with learning difficulties. {ECO:0000269|PubMed:11369620, ECO:0000269|PubMed:12930399, ECO:0000269|PubMed:15238149, ECO:0000269|PubMed:15604219, ECO:0000269|PubMed:15968458, ECO:0000269|PubMed:16461318, ECO:0000269|PubMed:18499901, ECO:0000269|PubMed:25153905}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In P5ND; almost complete loss of catalytic activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   VLEEVIRQAGVYHPNVKVVS  N FMDFDETGVLKGFKGELIHV
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                         VLEEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHV

Mouse                         VLEEVIRQAGVYHSNVKVVSNFMDFDENGVLKGFKGELIHV

Chicken                       ILEEVIHQAGVYHSNVKVVSNFMDFDENGILKGFKGELIHV

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.

TypePositionsDescription
Chain 1 – 336 Cytosolic 5'-nucleotidase 3A
Mutagenesis 232 – 232 D -> N. No effect on nucleotidase and phosphotransferase activity.
Mutagenesis 233 – 233 F -> A. Almost complete loss of nucleotidase and phosphotransferase activity.
Mutagenesis 234 – 234 D -> N. No effect on nucleotidase and phosphotransferase activity.
Beta strand 224 – 229


Literature citations

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.;
Blood 105:3340-3345(2005)
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;

Disclaimer: 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.