Sequence information
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:
LSCLGGGLALWRAGQWLWAQ
R LGHCHTYWAVSEELLPNSGH
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 LSCLGGGLALWRAGQWLWAQR LGHCHTYWAVSEELLPNSGH
Mouse LKGLGNGLALWQAGQCLWAQR LGHSHAFWALGEELLPDSGR
Pig LSCLGGGLALWRAGQWLWAQR LGHCHVYWAMGEELIPDSGH
Bovine LSCLGGGLALWRAGQWLCAQR LGHCHVYWAIGEELLPSCGH
Chicken LEVAGLRLEQ-RAGQ-LLATR LKKCKVFWALSQQL--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
Chain
1 – 427
Interferon regulatory factor 3
Region
141 – 427
Mediates interaction with ZDHHC11
Region
200 – 360
Interaction with HERC5
Disulfide bond
267 – 289
Alternative sequence
105 – 427
Missing. In isoform 5.
Alternative sequence
201 – 327
Missing. In isoform 2 and isoform 3.
Mutagenesis
285 – 285
R -> S. Abolished interaction with STING1, MAVS or TICAM1.
Mutagenesis
288 – 288
H -> S. Decreased interaction with TICAM1.
Mutagenesis
290 – 290
H -> S. Decreased interaction with TICAM1.
Beta strand
280 – 285
Literature citations
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;
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Zhang Q.; Bastard P.; Liu Z.; Le Pen J.; Moncada-Velez M.; Chen J.; Ogishi M.; Sabli I.K.D.; Hodeib S.; Korol C.; Rosain J.; Bilguvar K.; Ye J.; Bolze A.; Bigio B.; Yang R.; Arias A.A.; Zhou Q.; Zhang Y.; Onodi F.; Korniotis S.; Karpf L.; Philippot Q.; Chbihi M.; Bonnet-Madin L.; Dorgham K.; Smith N.; Schneider W.M.; Razooky B.S.; Hoffmann H.H.; Michailidis E.; Moens L.; Han J.E.; Lorenzo L.; Bizien L.; Meade P.; Neehus A.L.; Ugurbil A.C.; Corneau A.; Kerner G.; Zhang P.; Rapaport F.; Seeleuthner Y.; Manry J.; Masson C.; Schmitt Y.; Schlueter A.; Le Voyer T.; Khan T.; Li J.; Fellay J.; Roussel L.; Shahrooei M.; Alosaimi M.F.; Mansouri D.; Al-Saud H.; Al-Mulla F.; Almourfi F.; Al-Muhsen S.Z.; Alsohime F.; Al Turki S.; Hasanato R.; van de Beek D.; Biondi A.; Bettini L.R.; D'Angio' M.; Bonfanti P.; Imberti L.; Sottini A.; Paghera S.; Quiros-Roldan E.; Rossi C.; Oler A.J.; Tompkins M.F.; Alba C.; Vandernoot I.; Goffard J.C.; Smits G.; Migeotte I.; Haerynck F.; Soler-Palacin P.; Martin-Nalda A.; Colobran R.; Morange P.E.; Keles S.; Coelkesen F.; Ozcelik T.; Yasar K.K.; Senoglu S.; Karabela S.N.; Rodriguez-Gallego C.; Novelli G.; Hraiech S.; Tandjaoui-Lambiotte Y.; Duval X.; Laouenan C.; Snow A.L.; Dalgard C.L.; Milner J.D.; Vinh D.C.; Mogensen T.H.; Marr N.; Spaan A.N.; Boisson B.; Boisson-Dupuis S.; Bustamante J.; Puel A.; Ciancanelli M.J.; Meyts I.; Maniatis T.; Soumelis V.; Amara A.; Nussenzweig M.; Garcia-Sastre A.; Krammer F.; Pujol A.; Duffy D.; Lifton R.P.; Zhang S.Y.; Gorochov G.; Beziat V.; Jouanguy E.; Sancho-Shimizu V.; Rice C.M.; Abel L.; Notarangelo L.D.; Cobat A.; Su H.C.; Casanova J.L.;
Science 370:0-0(2020)
Cited for: VARIANTS GLU-49 DEL; 145-GLY--GLU-200 DEL; LYS-146; GLN-227; GLN-285 AND VAL-401; CHARACTERIZATION OF VARIANTS GLU-49 DEL; 145-GLY--GLU-200 DEL; LYS-146; GLN-227; GLN-285 AND VAL-401; FUNCTION;
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.