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UniProtKB/Swiss-Prot Q7Z434: Variant p.Ser409Phe

Mitochondrial antiviral-signaling protein
Gene: MAVS
Variant information

Variant position:  409
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Phenylalanine (F) at position 409 (S409F, p.Ser409Phe).
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 small size and polar (S) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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.



Sequence information

Variant position:  409
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:   PAAPTPAGATGGSSAWLDSS  S ENRGLGSELSKPGVLASQVD
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                         PAAPTPAGATGGSSAWLDSSSENRGLGSELSKPGVLASQVD

Mouse                         PEGPATKVTTGGNQTGPNSSIRSLHSGPEMSKPGVLVSQLD

Rat                           LEAPATVVTTGSSLTRPDISSRSLHSGPELSKPGVLVSQVD

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.

TypePositionsDescription
Chain 1 – 540 Mitochondrial antiviral-signaling protein
Topological domain 1 – 513 Cytoplasmic
Modified residue 408 – 408 Phosphoserine
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 427 – 427 Q -> A. No cleavage by HHAV 3ABC.


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 DDX58/RIG-I 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 DDX58/RIG-I; IKBKE; CHUK AND IKBKB; FUNCTION; CLEAVAGE SITE; MUTAGENESIS OF CYS-508; VARIANTS LYS-198 AND PHE-409;

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.