UniProtKB/SwissProt variant VAR

2-5A-dependent ribonuclease
Gene: RNASEL
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Variant information Variant position:

541
Type of variant:

LB/B
Residue change:

From Aspartate (D) to Glutamate (E) at position 541 (D541E, p.Asp541Glu).
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score:

2
Variant description:

No change in enzymatic activity.
Other resources:

Variant rs627928 [ dbSNP | Ensembl ]

Sequence information Variant position:

541
Protein sequence length:

741
Location on the sequence:

LEDLGRLVLYVVKKGSISFE D LKAQSNEEVVQLSPDEETKD
Residue conservation:

Human                         LEDLGRLVLYVVKKGSISFEDLKAQSNEEVVQLSPDEETKD

Mouse                         LEDLGRLVLYVVMKGEIPFETLKTQNDEVLLTMSPDEETKD

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 741	2-5A-dependent ribonuclease
Domain	365 – 586	Protein kinase
Helix	539 – 544

Literature citations
Germline alterations of the RNASEL gene, a candidate HPC1 gene at 1q25, in patients and families with prostate cancer.
Roekman A.; Ikonen T.; Seppaelae E.H.; Nupponen N.; Autio V.; Mononen N.; Bailey-Wilson J.; Trent J.; Carpten J.; Matikainen M.P.; Koivisto P.A.; Tammela T.L.J.; Kallioniemi O.-P.; Schleutker J.;
Am. J. Hum. Genet. 70:1299-1304(2002)
Cited for: VARIANTS SER-59; PHE-406; GLN-462 AND GLU-541; Germline mutations in the ribonuclease L gene in families showing linkage with HPC1.
Carpten J.; Nupponen N.; Isaacs S.; Sood R.; Robbins C.; Xu J.; Faruque M.; Moses T.; Ewing C.; Gillanders E.; Hu P.; Bujnovszky P.; Makalowska I.; Baffoe-Bonnie A.; Faith D.; Smith J.; Stephan D.; Wiley K.; Brownstein M.; Gildea D.; Kelly B.; Jenkins R.; Hostetter G.; Matikainen M.; Schleutker J.; Klinger K.; Connors T.; Xiang Y.; Wang Z.; De Marzo A.; Papadopoulos N.; Kallioniemi O.-P.; Burk R.; Meyers D.; Groenberg H.; Meltzer P.; Silverman R.; Bailey-Wilson J.; Walsh P.; Isaacs W.; Trent J.;
Nat. Genet. 30:181-184(2002)
Cited for: VARIANTS SER-59; GLN-462 AND GLU-541; RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases.
Casey G.; Neville P.J.; Plummer S.J.; Xiang Y.; Krumroy L.M.; Klein E.A.; Catalona W.J.; Nupponen N.; Carpten J.D.; Trent J.M.; Silverman R.H.; Witte J.S.;
Nat. Genet. 32:581-583(2002)
Cited for: CHARACTERIZATION OF VARIANTS GLN-462 AND GLU-541; 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-97; THR-289; GLN-462; GLU-541 AND HIS-592;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q05823: Variant p.Asp541Glu