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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UPY3: Variant p.Asp1810His

Endoribonuclease Dicer
Gene: DICER1
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Variant information Variant position: help 1810 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Aspartate (D) to Histidine (H) at position 1810 (D1810H, p.Asp1810His). 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: help Change from medium size and acidic (D) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In non-epithelial ovarian tumor; somatic mutation. Any additional useful information about the variant.


Sequence information Variant position: help 1810 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1922 The length of the canonical sequence.
Location on the sequence: help RRSEEDEEKEEDIEVPKAMG D IFESLAGAIYMDSGMSLETV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RRSEEDEEKEEDIEVPKAMGDIFESLAGAIYMDSGMSLETV

Mouse                         RRSEEDEEKEEDIEVPKAMGDIFESLAGAIYMDSGMSLEVV

Bovine                        RRSEEDEEKEEDIEVPKAMGDIFESLAGAIYMDSGMSLETV

Chicken                       RRSEEDEEKEEDIEVPKAMGDIFESLAGAIYMDSGMSLEMV

Xenopus tropicalis            RRSEEDEEKEEDIEVPKAMGDIFESLAGAIYMDSGMSLETV

Zebrafish                     RRSEEDEEKEEDIEVPKAMGDIFESLAGAIYMDSGMSLETV

Sequence annotation in neighborhood: help 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 – 1922 Endoribonuclease Dicer
Domain 1666 – 1824 RNase III 2
Binding site 1810 – 1810
Binding site 1813 – 1813
Site 1806 – 1806 Important for activity
Alternative sequence 1789 – 1922 LRRSEEDEEKEEDIEVPKAMGDIFESLAGAIYMDSGMSLETVWQVYYPMMRPLIEKFSANVPRSPVRELLEMEPETAKFSPAERTYDGKVRVTVEVVGKGKFKGVGRSYRIAKSAAARRALRSLKANQPQVPNS -> KSFLQMYPVPLCENCLKWNQKLPNLARLRELTTGRSESLWK. In isoform 2.
Mutagenesis 1813 – 1813 E -> A. Decreased activity. Loss of activity; when associated with E-1444.
Helix 1806 – 1822



Literature citations
Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers.
Heravi-Moussavi A.; Anglesio M.S.; Cheng S.W.; Senz J.; Yang W.; Prentice L.; Fejes A.P.; Chow C.; Tone A.; Kalloger S.E.; Hamel N.; Roth A.; Ha G.; Wan A.N.; Maines-Bandiera S.; Salamanca C.; Pasini B.; Clarke B.A.; Lee A.F.; Lee C.H.; Zhao C.; Young R.H.; Aparicio S.A.; Sorensen P.H.; Woo M.M.; Boyd N.; Jones S.J.; Hirst M.; Marra M.A.; Gilks B.; Shah S.P.; Foulkes W.D.; Morin G.B.; Huntsman D.G.;
N. Engl. J. Med. 366:234-242(2012)
Cited for: INVOLVEMENT IN NON-EPITHELIAL OVARIAN TUMORS; VARIANTS LYS-1705; ASN-1709; GLU-1709; GLY-1709; HIS-1810; TYR-1810; ASN-1810; GLN-1813; GLY-1813 AND LYS-1813; CHARACTERIZATION OF VARIANTS LYS-1705; ASN-1709 AND GLU-1709;
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.