Variant position: 280 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 TEYFNQLKDNSNIILLGDSQ GDLRMADGVANVEHILKIGYL
Mouse TDYFSQLKDNSNIILLGDSQ GDLRMADGVANVEHILKIGYL
Chicken TEYFKQLKDNSNIILLGDSQ GDLSMADGVANVEHILKIGYL
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.
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 basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency.
Kanno H.; Takizawa T.; Miwa S.; Fujii H.;
Br. J. Haematol. 126:265-271(2004)
Cited for: VARIANTS P5ND PRO-181 AND ARG-280; IDENTIFICATION OF ISOFORM 4; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS P5ND PRO-181 AND ARG-280;
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.