UniProtKB/Swiss-Prot P55265: Variant p.Arg100Gly

Double-stranded RNA-specific adenosine deaminase
Gene: ADAR
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Variant information Variant position:

100 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 Arginine (R) to Glycine (G) at position 100 (R100G, p.Arg100Gly). 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 (R) to glycine (G) 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.

Variant rs1466731 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1226 The length of the canonical sequence.
Location on the sequence:

ASSTRGRQVDIRGVPRGVHL R SQGLQRGFQHPSPRGRSLPQ 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                         ASSTRGRQVDIRGVPRGVHLRSQGLQRGFQHPSPRGRSLPQ

Mouse                         GPPAQDRQLEIWEFPRSVTLRNQGFHIGPPLPPPHSRGTPW

Rat                           GPPAQGKQPEIWGFPRSVTLRNQGFHIGPPLPPPHSRGPPW

Caenorhabditis elegans        MSVEEGMEVEL------------------------------

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 – 1226	Double-stranded RNA-specific adenosine deaminase
Alternative sequence	1 – 295	Missing. In isoform 5.

Literature citations
Molecular cloning of cDNA for double-stranded RNA adenosine deaminase, a candidate enzyme for nuclear RNA editing.
Kim U.; Wang Y.; Sanford T.; Zeng Y.; Nishikura K.;
Proc. Natl. Acad. Sci. U.S.A. 91:11457-11461(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PARTIAL PROTEIN SEQUENCE; FUNCTION; CATALYTIC ACTIVITY; TISSUE SPECIFICITY; VARIANT GLY-100; Expression and regulation by interferon of a double-stranded-RNA-specific adenosine deaminase from human cells: evidence for two forms of the deaminase.
Patterson J.B.; Samuel C.E.;
Mol. Cell. Biol. 15:5376-5388(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION; INDUCTION BY INTERFERON; VARIANTS GLY-100 AND ARG-384; Functionally distinct double-stranded RNA-binding domains associated with alternative splice site variants of the interferon-inducible double-stranded RNA-specific adenosine deaminase.
Liu Y.; George C.X.; Patterson J.B.; Samuel C.E.;
J. Biol. Chem. 272:4419-4428(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3); VARIANTS GLY-100 AND ARG-384; The gene coding for the interferon-inducible human dsRNA adenosine deaminase is transcribed into several messengers specifying different proteins.
Deblandre G.; Marinx O.; Nols C.; Defrance P.; Berr P.; Huez G.; Caput D.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 5); VARIANTS GLY-100 AND ARG-384; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4); VARIANTS GLY-100 AND ARG-384; 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] (ISOFORM 1); VARIANT GLY-100;

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.