UniProtKB/Swiss-Prot Q92985: Variant p.Lys179Glu

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

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

LB/B 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 Lysine (K) to Glutamate (E) at position 179 (K179E, p.Lys179Glu). 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 basic (K) to medium size and acidic (E) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1061502 [ dbSNP | Ensembl ]

Sequence information Variant position:

179 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:

LAHTHAGLQAPGPLPAPAGD K GDLLLQAVQQSCLADHLLTA 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                         LAHTHAGLQAPGPLPAPAGDKGDLLLQAVQQSCLADHLLTA

Mouse                         LARENAGLQTPSPLLSS--DAGDLLLQVLQYS----HILES

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
Alternative sequence	165 – 503	Missing. In isoform C.
Mutagenesis	167 – 167	Q -> A. Complete loss of inactivation of IFN-I production; when associated with R-189.
Mutagenesis	167 – 167	Q -> A. No effect on cleavage by enterovirus 71.
Mutagenesis	185 – 185	Q -> A. No effect on cleavage by enterovirus 71.
Mutagenesis	188 – 188	Q -> A. No effect on cleavage by enterovirus 71.
Mutagenesis	189 – 189	Q -> A. Complete loss of cleavage by enterovirus 71.
Mutagenesis	189 – 189	Q -> R. Complete loss of inactivation of IFN-I production; when associated with A-167.

Literature citations
Submission
Grossman A.; Nicholl J.; Antonio L.; Luethy R.; Suggs S.; Sutherland G.R.; Mak T.W.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); VARIANT GLU-179; Characterization of the interferon regulatory factor-7 and its potential role in the transcription activation of interferon A genes.
Au W.-C.; Moore P.A.; LaFleur D.W.; Tombal B.; Pitha P.M.;
J. Biol. Chem. 273:29210-29217(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM D); VARIANTS GLU-179 AND ARG-412;

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.