UniProtKB/Swiss-Prot P50148: Variant p.Gln209Leu

Guanine nucleotide-binding protein G(q) subunit alpha
Gene: GNAQ
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Variant information Variant position:

209 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 Leucine (L) at position 209 (Q209L, p.Gln209Leu). 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 medium size and hydrophobic (L) 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
Variant description:

Found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121913492 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

IIEYPFDLQSVIFRMVDVGG Q RSERRKWIHCFENVTSIMFL 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                         IIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFL

                              IIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFL

Mouse                         IIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFL

Rat                           IIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFL

Pig                           IIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFL

Xenopus laevis                IIEYPFDLQSVIFRMVDVGGQRSERRKWIHCFENVTSIMFL

Drosophila                    ILEYPFDLDGIVFRMVDVGGQRSERRKWIHCFENVTSIIFL

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 – 359	Guanine nucleotide-binding protein G(q) subunit alpha
Domain	38 – 359	G-alpha
Region	201 – 210	G3 motif
Modified residue	209 – 209	5-glutamyl histamine
Modified residue	209 – 209	Deamidated glutamine; by Photorhabdus PAU_02230
Mutagenesis	209 – 209	Q -> L. Loss of GTPase activity.

Literature citations
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.
Van Raamsdonk C.D.; Bezrookove V.; Green G.; Bauer J.; Gaugler L.; O'Brien J.M.; Simpson E.M.; Barsh G.S.; Bastian B.C.;
Nature 457:599-602(2009)
Cited for: CHARACTERIZATION OF VARIANT LEU-209;

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.