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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P34947: Variant p.Gln41Leu

G protein-coupled receptor kinase 5
Gene: GRK5
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Variant information Variant position: help 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamine (Q) to Leucine (L) at position 41 (Q41L, p.Gln41Leu). 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: help 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: help -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

Polymorphism: help Variant Leu-41 variant is rare in European-Americans individuals but common in African-Americans individuals (40% of the African-American individuals studied carry at least one allele). Variant leu-41 is associated with decreased mortality in African-Americans with heart failure or cardiac ischemia. Additional information on the polymorphism described.
Variant description: help Exerts a protective effect in heart failure and ischemia. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 590 The length of the canonical sequence.
Location on the sequence: help GKRKGKSKKWKEILKFPHIS Q CEDLRRTIDRDYCSLCDKQP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         GKRKGKSKKWKEILKFPHISQCEDLRRTIDRDYCSLCDKQP

Mouse                         GKRKGKSKKWKEILKFPHISQCEDLRRTIDRDYYSLCDKQP

Rat                           GKRKGKSKKWKEILKFPHINQCEDLRRTIDRDYYSLCDKQP

Bovine                        GKRKGKSKKWKEILKFPHINQCEDLRRTIDRDYCSLCDKQP

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 590 G protein-coupled receptor kinase 5
Region 1 – 185 N-terminal
Helix 39 – 42



Literature citations
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-41; VAL-119; SER-122; MET-129; ILE-141; GLU-163 AND HIS-304; A GRK5 polymorphism that inhibits beta-adrenergic receptor signaling is protective in heart failure.
Liggett S.B.; Cresci S.; Kelly R.J.; Syed F.M.; Matkovich S.J.; Hahn H.S.; Diwan A.; Martini J.S.; Sparks L.; Parekh R.R.; Spertus J.A.; Koch W.J.; Kardia S.L.; Dorn G.W. II;
Nat. Med. 14:510-517(2008)
Cited for: VARIANT LEU-41; CHARACTERIZATION OF VARIANT LEU-41; POLYMORPHISM; POSSIBLE PROTECTIVE ROLE IN THE PROGRESSION OF HEART FAILURE;
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.