Variant position:  285

Type of variant:  LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.]

Residue change:  From Arginine (R) to Glutamine (Q) at position 285 (R285Q, p.Arg285Gln).

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (Q)

BLOSUM score:  1

Variant description:  In IIAE7; loss of viral infection-induced phosphorylation at S-386; loss of viral infection-induced homodimerization; loss of viral infection-induced transcription factor activity; unable to activate interferon transcription in response to viral infection; decreased IFNB induction upon Sendai virus infection.

Other resources:  

• Variant rs750526659 [ dbSNP | Ensembl ]

Variant position:  285

Protein sequence length:  427

Location on the sequence:   LSCLGGGLALWRAGQWLWAQ  R LGHCHTYWAVSEELLPNSGH

Residue conservation: 

Human                         LSCLGGGLALWRAGQWLWAQRLGHCHTYWAVSEELLPNSGH

Mouse                         LKGLGNGLALWQAGQCLWAQRLGHSHAFWALGEELLPDSGR

Pig                           LSCLGGGLALWRAGQWLWAQRLGHCHVYWAMGEELIPDSGH

Bovine                        LSCLGGGLALWRAGQWLCAQRLGHCHVYWAIGEELLPSCGH

Chicken                       LEVAGLRLEQ-RAGQ-LLATRLKKCKVFWALSQQL--EGGE

Sequence annotation in neighborhood:  

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;