Variant position: 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 427 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 LSCLGGGLALWRAGQWLWAQ RLGHCHTYWAVSEELLPNSGH
Mouse LKGLGNGLALWQAGQCLWAQ RLGHSHAFWALGEELLPDSGR
Pig LSCLGGGLALWRAGQWLWAQ RLGHCHVYWAMGEELIPDSGH
Bovine LSCLGGGLALWRAGQWLCAQ RLGHCHVYWAIGEELLPSCGH
Chicken LEVAGLRLEQ-RAGQ-LLAT RLKKCKVFWALSQQL--EGGE
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.
Type Positions Description
1 – 427 Interferon regulatory factor 3
200 – 360 Interaction with HERC5
267 – 289
105 – 427 Missing. In isoform 5.
201 – 327 Missing. In isoform 2 and isoform 3.
285 – 285 R -> S. Abolished interaction with TMEM173/STING, MAVS or TICAM1.
288 – 288 H -> S. Decreased interaction with TICAM1.
290 – 290 H -> S. Decreased interaction with TICAM1.
280 – 285
Functional IRF3 deficiency in a patient with herpes simplex encephalitis.
Andersen L.L.; Moerk N.; Reinert L.S.; Kofod-Olsen E.; Narita R.; Joergensen S.E.; Skipper K.A.; Hoening K.; Gad H.H.; Oestergaard L.; Oerntoft T.F.; Hornung V.; Paludan S.R.; Mikkelsen J.G.; Fujita T.; Christiansen M.; Hartmann R.; Mogensen T.H.;
J. Exp. Med. 212:1371-1379(2015)
Cited for: INVOLVEMENT IN IIAE7; VARIANT IIAE7 GLN-285; CHARACTERIZATION OF VARIANT IIAE7 GLN-285;
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.