Results for the protein: O00584

Results for the Protein: O00584

20139363

8635

RNASET2

NCBI, UniProt

RNT2_HUMAN RecName: Full=Ribonuclease T2; AltName: Full=Ribonuclease 6; Flags: Precursor

Known Diseases associated with this Protein:
LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (LCWM)

2

1

1

1

1

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Default View: Ribonuclease_T2 - pfam00445 RNase_T2_euk - cd01061 RNase_T2 - cd00374 RNase_T2_prok - cd01062	Swiss-Prot Protein: O00584 Identical to: NP_003721 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RNase_T2_euk	cd01061	2e-82	34	247
RNase_T2_prok	cd01062	2.4e-07	41	228
Ribonuclease_T2	pfam00445	1.1e-51	34	215

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11159	Polymorphism	p.ARG236TRP	N/A
Swiss-Prot	VAR_063596	Disease	p.CYS184ARG	Leukoencephalopathy, cystic, without megalencephaly (LCWM)
OMIM	612944.0001	Disease	p.CYS184ARG	LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY

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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