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UniProtKB/Swiss-Prot Q7Z434: Variant p.Gln198Lys

Mitochondrial antiviral-signaling protein
Gene: MAVS
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Variant information Variant position: help 198
Type of variant: help LB/B
Residue change: help From Glutamine (Q) to Lysine (K) at position 198 (Q198K, p.Gln198Lys).
Physico-chemical properties: help Change from medium size and polar (Q) to large size and basic (K)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 198
Protein sequence length: help 540
Location on the sequence: help LESSSDLAALSPLTSSGHQE Q DTELGSTHTAGATSSLTPSR
Residue conservation: help 
Human                         LESSSDLAALSPLTSSGHQEQDTELGSTHTAGATSSLTPSR

Mouse                         LIPSPNQQALSPQPSREHQEQEPELGGAHAANVASVPIATY

Rat                           LISSPNPPALSPQPSREHPEQEPELGGPSTANVDSVPIATY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 540 Mitochondrial antiviral-signaling protein
Topological domain 2 – 513 Cytoplasmic
Region 95 – 297 Disordered
Compositional bias 179 – 216 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.