Results for the protein: Q05823

Results for the Protein: Q05823

1350802

6041

RNASEL

NCBI, UniProt

RN5A_HUMAN RecName: Full=2-5A-dependent ribonuclease; Short=2-5A-dependent RNase; AltName: Full=Ribonuclease 4; AltName: Full=Ribonuclease L; Short=RNase L

Known Diseases associated with this Protein:
PROSTATE CANCER, HEREDITARY, 1
PROSTATE CANCER, SUSCEPTIBILITY TO

2

7

2

2

5

Tips:

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Default View: ANK - smart00248 STYKc - smart00221 S_TKc - smart00220 Ribonuc_2-5A - pfam06479 PUG - smart00580	Swiss-Prot Protein: Q05823 Identical to: NP_066956 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ANK	smart00248	1.6e-05	91	120
ANK	smart00248	0.00014	124	153
ANK	smart00248	9.3e-06	167	197
STYKc	smart00221	7.3e-05	365	586
S_TKc	smart00220	4.8e-07	375	586
Ribonuc_2-5A	pfam06479	5e-62	591	722
PUG	smart00580	6.8e-17	657	708

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_042359	Polymorphism	p.ALA289THR	N/A
dbSNP	rs486907	Polymorphism	p.ARG462GLN	N/A
Swiss-Prot	VAR_042360	Polymorphism	p.ARG592HIS	N/A
dbSNP	rs627928	Polymorphism	p.ASP541GLU	N/A
Swiss-Prot	VAR_013509	Polymorphism	p.GLY59SER	N/A
Swiss-Prot	VAR_042358	Polymorphism	p.ILE97LEU	N/A
Swiss-Prot	VAR_013510	Polymorphism	p.SER406PHE	N/A
OMIM	180435.0003	Disease	p.ARG462GLN	PROSTATE CANCER, SUSCEPTIBILITY TO
OMIM	180435.0001	Disease	p.GLU265TER	PROSTATE CANCER, HEREDITARY, 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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