Sequence information
Variant position: 373 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 925 The length of the canonical sequence.
Location on the sequence:
NNLKKGTIPSLSIFTLMIFD
E CHNTSKQHPYNMIMFNYLDQ
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 NNLKKGTIPSLSIFTLMIFDE CHNTSKQHPYNMIMFNYLDQ
Mouse NNLNNGAIPSLSVFTLMIFDE CHNTSKNHPYNQIMFRYLDH
Pig NCLTNGTIPSLSVFTLMIFDE CHNTSKQHPYNVIMFSYLDR
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 – 925
Antiviral innate immune response receptor RIG-I
Domain
251 – 430
Helicase ATP-binding
Region
218 – 925
Interaction with ZC3HAV1
Motif
372 – 375
DECH box
Literature citations
Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome.
Jang M.A.; Kim E.K.; Now H.; Nguyen N.T.; Kim W.J.; Yoo J.Y.; Lee J.; Jeong Y.M.; Kim C.H.; Kim O.H.; Sohn S.; Nam S.H.; Hong Y.; Lee Y.S.; Chang S.A.; Jang S.Y.; Kim J.W.; Lee M.S.; Lim S.Y.; Sung K.S.; Park K.T.; Kim B.J.; Lee J.H.; Kim D.K.; Kee C.; Ki C.S.;
Am. J. Hum. Genet. 96:266-274(2015)
Cited for: INVOLVEMENT IN SGMRT2; VARIANTS SGMRT2 PHE-268 AND ALA-373; CHARACTERIZATION OF VARIANTS SGMRT2 PHE-268 AND ALA-373;
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.