UniProtKB/Swiss-Prot Q05823: Variant p.Asp541Glu

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

541 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 Aspartate (D) to Glutamate (E) at position 541 (D541E, p.Asp541Glu). 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:

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

No change in enzymatic activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs627928 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LEDLGRLVLYVVKKGSISFE D LKAQSNEEVVQLSPDEETKD 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                         LEDLGRLVLYVVKKGSISFEDLKAQSNEEVVQLSPDEETKD

Mouse                         LEDLGRLVLYVVMKGEIPFETLKTQNDEVLLTMSPDEETKD

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 – 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;

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.