UniProtKB/Swiss-Prot O94759: Variant p.Gln1189Arg

Transient receptor potential cation channel subfamily M member 2
Gene: TRPM2
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Variant information Variant position:

1189 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 Arginine (R) at position 1189 (Q1189R, p.Gln1189Arg). 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 (R) 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 rs9978351 [ dbSNP | Ensembl ]

Sequence information Variant position:

1189 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1503 The length of the canonical sequence.
Location on the sequence:

RSGSMEQRLASLEEQVAQTA Q ALHWIVRTLRASGFSSEADV 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                         RSGSMEQRLASLEEQVAQTAQALHWIVRTLRASGFSSEADV

Mouse                         RSGSTEQRLASLEEQVTQVTRALHWIVTTLKDSGFGSGAGA

Rat                           RSGSTEQRLASLEEQVTQMGRSLHWIVTTLKDSGFGSGAGA

Zebrafish                     VSATMAKRLARLEEQVSESAKALRWIIDALKSQGCKSKVQP

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 – 1503	Transient receptor potential cation channel subfamily M member 2
Topological domain	1099 – 1503	Cytoplasmic
Alternative sequence	847 – 1503	Missing. In isoform 3.

Literature citations
Molecular cloning of a novel putative Ca2+ channel protein (TRPC7) highly expressed in brain.
Nagamine K.; Kudoh J.; Minoshima S.; Kawasaki K.; Asakawa S.; Ito F.; Shimizu N.;
Genomics 54:124-131(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-1189; Activation of the cation channel long transient receptor potential channel 2 (LTRPC2) by hydrogen peroxide. A splice variant reveals a mode of activation independent of ADP-ribose.
Wehage E.; Eisfeld J.; Heiner I.; Juengling E.; Zitt C.; Lueckhoff A.;
J. Biol. Chem. 277:23150-23156(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANT ARG-1189; FUNCTION (ISOFORMS 1 AND 2); SUBCELLULAR LOCATION; REGULATION BY OXIDATIVE STRESS; A novel TRPM2 isoform inhibits calcium influx and susceptibility to cell death.
Zhang W.; Chu X.; Tong Q.; Cheung J.Y.; Conrad K.; Masker K.; Miller B.A.;
J. Biol. Chem. 278:16222-16229(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANT ARG-1189; FUNCTION (ISOFORMS 1 AND 3); INTERACTION BETWEEN ISOFORMS 1 AND 3; SUBCELLULAR LOCATION; Characterization of human and mouse TRPM2 genes: identification of a novel N-terminal truncated protein specifically expressed in human striatum.
Uemura T.; Kudoh J.; Noda S.; Kanba S.; Shimizu N.;
Biochem. Biophys. Res. Commun. 328:1232-1243(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-1189; Cloning of the human TRPM2.
Hayes P.D.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-1189;

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.