UniProtKB/Swiss-Prot Q92985: Variant p.Phe410Val

Interferon regulatory factor 7
Gene: IRF7
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Variant information Variant position:

410 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Phenylalanine (F) to Valine (V) at position 410 (F410V, p.Phe410Val). 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:

Change from large size and aromatic (F) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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:

In IMD39; loss of function mutation; shows abnormal localization to the cytoplasm rather than the nucleus; abolished IFNB induction upon Sendai virus infection. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs786205223 [ dbSNP | Ensembl ]

Sequence information Variant position:

410 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

503 The length of the canonical sequence.
Location on the sequence:

STPACLLPRNCDTPIFDFRV F FQELVEFRARQRRGSPRYTI 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                         STPACLLPRNCDTPIFDFRVFFQELVEFRARQRRGSPRYTI

Mouse                         STPPQLLERNRHTPIFDFSTFFRELEEFRARRRQGSPHYTI

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 – 503	Interferon regulatory factor 7
Region	284 – 456	Necessary for the interaction with NMI
Alternative sequence	165 – 503	Missing. In isoform C.

Literature citations
Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency.
Ciancanelli M.J.; Huang S.X.; Luthra P.; Garner H.; Itan Y.; Volpi S.; Lafaille F.G.; Trouillet C.; Schmolke M.; Albrecht R.A.; Israelsson E.; Lim H.K.; Casadio M.; Hermesh T.; Lorenzo L.; Leung L.W.; Pedergnana V.; Boisson B.; Okada S.; Picard C.; Ringuier B.; Troussier F.; Chaussabel D.; Abel L.; Pellier I.; Notarangelo L.D.; Garcia-Sastre A.; Basler C.F.; Geissmann F.; Zhang S.Y.; Snoeck H.W.; Casanova J.L.;
Science 348:448-453(2015)
Cited for: INVOLVEMENT IN IMD39; VARIANT IMD39 VAL-410; CHARACTERIZATION OF VARIANT IMD39 VAL-410; 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 HIS-37; SER-95; ASN-117; ARG-133; 185-GLN--ALA-503 DEL; LEU-214; ALA-254; GLN-369; VAL-371; VAL-410; THR-419 AND 421-GLN--ALA-503 DEL; CHARACTERIZATION OF VARIANTS HIS-37; SER-95; ASN-117; ARG-133; 185-GLN--ALA-503 DEL; LEU-214; ALA-254; GLN-369; VAL-371; VAL-410; THR-419 AND 421-GLN--ALA-503 DEL; 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.