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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q969X6: Variant p.Arg565Trp

U3 small nucleolar RNA-associated protein 4 homolog
Gene: UTP4
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Variant information Variant position: help 565 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 Arginine (R) to Tryptophan (W) at position 565 (R565W, p.Arg565Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 Found in patients with North American Indian childhood cirrhosis; uncertain significance; does not affect nucleolar protein location; decreased interaction with HIVEP1 measured in yeast two-hybrid screening. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 565 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 686 The length of the canonical sequence.
Location on the sequence: help HSDQQVFEYSIPDKQYTDWS R TVQKQGFHHLWLQRDTPITH 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                         HSDQQVFEYSI----------PDKQYTDWSRTVQKQGFHHLWLQRDTPITH

Mouse                         HSDQQVFEFSI----------PEKQYTEWSRSLQKQGFHQL

Baker's yeast                 TADNKIYEFNMNLNSEAENEDSESVLTQWSKN-NTDNLPKE

Fission yeast                 TAGNQVYEFDV----------QSRKLSEWSKN-NSTNMPKE

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 – 686 U3 small nucleolar RNA-associated protein 4 homolog
Repeat 517 – 566 WD 12



Literature citations
Nucleolar localization of cirhin, the protein mutated in North American Indian childhood cirrhosis.
Yu B.; Mitchell G.A.; Richter A.;
Exp. Cell Res. 311:218-228(2005)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT TRP-565; Cirhin up-regulates a canonical NF-kappaB element through strong interaction with Cirip/HIVEP1.
Yu B.; Mitchell G.A.; Richter A.;
Exp. Cell Res. 315:3086-3098(2009)
Cited for: FUNCTION; INTERACTION WITH HIVEP1; CHARACTERIZATION OF VARIANT TRP-565; A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis.
Chagnon P.; Michaud J.; Mitchell G.; Mercier J.; Marion J.-F.; Drouin E.; Rasquin-Weber A.; Hudson T.J.; Richter A.;
Am. J. Hum. Genet. 71:1443-1449(2002)
Cited for: VARIANT TRP-565; Analysis of protein-coding genetic variation in 60,706 humans.
Lek M.; Karczewski K.J.; Minikel E.V.; Samocha K.E.; Banks E.; Fennell T.; O'Donnell-Luria A.H.; Ware J.S.; Hill A.J.; Cummings B.B.; Tukiainen T.; Birnbaum D.P.; Kosmicki J.A.; Duncan L.E.; Estrada K.; Zhao F.; Zou J.; Pierce-Hoffman E.; Berghout J.; Cooper D.N.; Deflaux N.; DePristo M.; Do R.; Flannick J.; Fromer M.; Gauthier L.; Goldstein J.; Gupta N.; Howrigan D.; Kiezun A.; Kurki M.I.; Moonshine A.L.; Natarajan P.; Orozco L.; Peloso G.M.; Poplin R.; Rivas M.A.; Ruano-Rubio V.; Rose S.A.; Ruderfer D.M.; Shakir K.; Stenson P.D.; Stevens C.; Thomas B.P.; Tiao G.; Tusie-Luna M.T.; Weisburd B.; Won H.H.; Yu D.; Altshuler D.M.; Ardissino D.; Boehnke M.; Danesh J.; Donnelly S.; Elosua R.; Florez J.C.; Gabriel S.B.; Getz G.; Glatt S.J.; Hultman C.M.; Kathiresan S.; Laakso M.; McCarroll S.; McCarthy M.I.; McGovern D.; McPherson R.; Neale B.M.; Palotie A.; Purcell S.M.; Saleheen D.; Scharf J.M.; Sklar P.; Sullivan P.F.; Tuomilehto J.; Tsuang M.T.; Watkins H.C.; Wilson J.G.; Daly M.J.; MacArthur D.G.;
Nature 536:285-291(2016)
Cited for: VARIANT TRP-565;
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.