UniProtKB/Swiss-Prot Q7Z434: Variant p.Gln198Lys

Mitochondrial antiviral-signaling protein
Gene: MAVS
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Variant information Variant position:

198 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 Glutamine (Q) to Lysine (K) at position 198 (Q198K, p.Gln198Lys). 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 medium size and polar (Q) to large size and basic (K) 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 rs7262903 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LESSSDLAALSPLTSSGHQE Q DTELGSTHTAGATSSLTPSR 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                         LESSSDLAALSPLTSSGHQEQDTELGSTHTAGATSSLTPSR

Mouse                         LIPSPNQQALSPQPSREHQEQEPELGGAHAANVASVPIATY

Rat                           LISSPNPPALSPQPSREHPEQEPELGGPSTANVDSVPIATY

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 – 540	Mitochondrial antiviral-signaling protein
Topological domain	1 – 513	Cytoplasmic
Region	95 – 297	Disordered
Compositional bias	184 – 262	Polar residues
Modified residue	180 – 180	Phosphoserine
Modified residue	188 – 188	Phosphoserine
Modified residue	215 – 215	Phosphothreonine
Alternative sequence	125 – 540	Missing. In isoform 5.
Alternative sequence	132 – 540	Missing. In isoform 2 and isoform 6.
Alternative sequence	149 – 540	Missing. In isoform 3.
Mutagenesis	196 – 196	Q -> A. No effect on cleavage by Seneca Valley virus protease 3C.
Mutagenesis	198 – 198	Q -> A. No effect on cleavage by Seneca Valley virus protease 3C.
Mutagenesis	209 – 209	G -> A. Complete loss of cleavage by protease 2A of enterovirus 71.

Literature citations
Identification and characterization of MAVS, a mitochondrial antiviral signaling protein that activates NF-kappaB and IRF 3.
Seth R.B.; Sun L.; Ea C.-K.; Chen Z.J.;
Cell 122:669-682(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; TISSUE SPECIFICITY; MUTAGENESIS OF THR-54 AND 67-GLY--VAL-69; INTERACTION WITH RIGI AND TRAF6; SUBCELLULAR LOCATION; VARIANTS LYS-198 AND PHE-409; Cardif is an adaptor protein in the RIG-I antiviral pathway and is targeted by hepatitis C virus.
Meylan E.; Curran J.; Hofmann K.; Moradpour D.; Binder M.; Bartenschlager R.; Tschopp J.;
Nature 437:1167-1172(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); INTERACTION WITH RIGI; IKBKE; CHUK AND IKBKB; FUNCTION; MUTAGENESIS OF CYS-508; VARIANTS LYS-198 AND PHE-409; INTERACTION WITH HCV NS3/4A PROTEASE (MICROBIAL INFECTION); PROTEOLYTIC CLEAVAGE (MICROBIAL INFECTION); The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLU-93; LYS-198 AND PHE-409;

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.