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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q3KP66: Variant p.Tyr333Phe

Innate immunity activator protein
Gene: INAVA
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Variant information Variant position: help 333 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Tyrosine (Y) to Phenylalanine (F) at position 333 (Y333F, p.Tyr333Phe). 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 Similar physico-chemical property. Both residues are large size and aromatic. 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 In IBD29; decreases protein stability. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 333 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 663 The length of the canonical sequence.
Location on the sequence: help SPERAPVQNSPWKETSLDHP Y EKPRKSSEPWSESSSPATTP 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                         SPERAPVQNSPWKETSLDHPYEKPRKSSEPWSESSSPATTP

Mouse                         GQERAPIQNSPWKETSLDHPYEKPRKSSELSSESSSPATTP
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 – 663 Innate immunity activator protein
Region 242 – 362 Disordered
Motif 332 – 338 Nuclear localization signal (NLS) 2
Mutagenesis 340 – 340 S -> A. Decreases interaction with YWHAQ, cellular signaling pathway activation and cytokine secretion.



Literature citations
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas M.A.; Beaudoin M.; Gardet A.; Stevens C.; Sharma Y.; Zhang C.K.; Boucher G.; Ripke S.; Ellinghaus D.; Burtt N.; Fennell T.; Kirby A.; Latiano A.; Goyette P.; Green T.; Halfvarson J.; Haritunians T.; Korn J.M.; Kuruvilla F.; Lagace C.; Neale B.; Lo K.S.; Schumm P.; Toerkvist L.; Dubinsky M.C.; Brant S.R.; Silverberg M.S.; Duerr R.H.; Altshuler D.; Gabriel S.; Lettre G.; Franke A.; D'Amato M.; McGovern D.P.; Cho J.H.; Rioux J.D.; Xavier R.J.; Daly M.J.;
Nat. Genet. 43:1066-1073(2011)
Cited for: INVOLVEMENT IN IBD29; VARIANT IBD29 PHE-333; C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions.
Mohanan V.; Nakata T.; Desch A.N.; Levesque C.; Boroughs A.; Guzman G.; Cao Z.; Creasey E.; Yao J.; Boucher G.; Charron G.; Bhan A.K.; Schenone M.; Carr S.A.; Reinecker H.C.; Daly M.J.; Rioux J.D.; Lassen K.G.; Xavier R.J.;
Science 359:1161-1166(2018)
Cited for: FUNCTION; INVOLVEMENT IN IBD29; VARIANT IBD29 PHE-333; CHARACTERIZATION OF VARIANT IBD29 PHE-333; TISSUE SPECIFICITY; INTERACTION WITH BTRC; CYTH1; CYTH2 AND FBXW11;
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.