Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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Curation:

Currentness:

GRK5 Q41L

(GRK5 Gln41Leu)

Variant evidence
Computational	3	PolyPhen2: Benign, score 0.014 SIFT: Affect protein function 0.00 GVGD: GV 0.00; GD 112.44; Class C65 Variant Effect Predictor (Ensembl): SIFT=tolerated(0.07); PolyPhen=benign(0.014); Condel=deleterious(0.839) Mutation Tasting Prediction: Polymorphism, P value: 0.068269; protein features (might be) affected (aa 1-185 REGION N-terminal gets lost)

Functional	-

Case/Control	-

Familial	-


Clinical importance
Severity	-

Treatability	-

Penetrance	-

Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

T @ chr10:121086097: 9.9% (1069/10758) in EVS
T @ chr10:121076086: 13.3% (17/128) in GET-Evidence
Frequency shown in summary reports: 9.9% (1069/10758)

Publications

Genomes

Other external references

dbSNP

rs17098707
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

PharmGKB

[Heart Failure]
This variant, present in approximately 40% of African Americans, is a nonsynonymous polymorphism of GRK5 that encodes a G protein-coupled receptor kinase in which Leucine is substituted for Glutamine at amino acid position 41. African American subjects with this variant had a longer time to death or cardiac transplantation than those without it, indicating a protective effect of GRK5-Leu 41. In transgenic mice, human GRK5-Leu41 is protective against cardiomyopathy induced by exposure to excessive catecholamine levels. In vitro experiments demonstrate that GRK5-Leu enhances desensitization of catecholamine-stimulated human beta-adrenergic receptors.
www.ncbi.nlm.nih.gov/pubmed/18425130

PolyPhen-2

Score: 0.016 (benign)

Other in silico analyses

NBLOSUM100 score = 5
GET-Evidence autoscore = 1

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01173-DNA_B07 from PGP sample 61499538 view
Aug 13 2011 Han Luu edited article 18425130 summary view
Aug 13 2011 Han Luu edited variant summary view
Jun 23 2011 Genome Importing Robot removed [NA19129] view
Jun 22 2011 Genome Importing Robot removed Desmond Tutu view
Jun 15 2011 Han Luu edited variant summary view
Mar 29 2011 Genome Importing Robot added var-GS19834-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19704-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19701-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19129-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19026-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19020-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS19017-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18526-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18508-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS06985-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18501-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18502-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18504-1100-36-ASM view
Mar 29 2011 Genome Importing Robot added var-GS18505-1100-36-ASM view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Jr. view
Dec 8 2010 Genome Importing Robot removed Henry Louis Gates Sr. view
Dec 6 2010 Genome Importing Robot added hu3215A7 build 36 substitution variants view
Dec 6 2010 Genome Importing Robot added hu728FFF build 36 substitution variants view
May 17 2010 PharmGKB Importing Robot added variant view
May 17 2010 PharmGKB Importing Robot added article 18425130 view
May 12 2010 Genome Importing Robot added Henry Louis Gates Jr. view
Feb 27 2010 Genome Importing Robot added Desmond Tutu view
Feb 17 2010 Genome Importing Robot added Henry Louis Gates Sr. view
Dec 27 2009 Genome Importing Robot added [NA19129] view
Dec 27 2009 Genome Importing Robot added variant view

GRK5 Q41L - GET-Evidence