Results for the protein: NP

Results for the Protein: NP_001164105

283135201

2521

FUS

NCBI

RNA-binding protein FUS isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
  AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
  AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE
  TREMOR, HEREDITARY ESSENTIAL, 4
  TREMOR, HEREDITARY ESSENTIAL, 4, INCLUDED

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Default View: - smart00362 RRM_SF - cd00590 RRM_1 - pfam00076 RRM - smart00360 zf-RanBP - pfam00641 ZnF_RBZ - smart00547	RefSeq Protein: NP_001164105 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RRM_1	pfam00076	2.2e-14	286	364
zf-RanBP	pfam00641	3.8e-13	421	452
	smart00362	2.4e-23	285	366
RRM	smart00360	1.5e-12	288	366
ZnF_RBZ	smart00547	1.7e-05	423	449

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	137070.0007	Disease	p.ARG215CYS	AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA\|\|TREMOR, HEREDITARY ESSENTIAL, 4, INCLUDED
OMIM	137070.0004	Disease	p.ARG520CYS	AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	137070.0002	Disease	p.ARG520GLY	AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	137070.0005	Disease	p.ARG520HIS	AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	137070.0003	Disease	p.ARG517LYS	AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	137070.0009	Disease	p.ARG494TER	AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	137070.0008	Disease	p.ARG523TRP	AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	137070.0011	Disease	p.GLN289TER	TREMOR, HEREDITARY ESSENTIAL, 4
OMIM	137070.0006	Disease	p.GLY506ASP	AMYOTROPHIC LATERAL SCLEROSIS 6 WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	137070.0010	Disease	p.GLY205SER	AMYOTROPHIC LATERAL SCLEROSIS 6 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	137070.0001	Disease	p.HIS516GLN	AMYOTROPHIC LATERAL SCLEROSIS 6, AUTOSOMAL RECESSIVE
OMIM	137070.0012	Disease	p.PRO430LEU	TREMOR, HEREDITARY ESSENTIAL, 4

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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