Results for the protein: NP

Results for the Protein: NP_002127

4504445

3178

HNRNPA1

NCBI

heterogeneous nuclear ribonucleoprotein A1 isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 20
  DEMENTIA 3 (1 FAMILY)
  INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL

3

0

3

0

0

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Default View: COG0724 - COG0724 - smart00362 RRM_SF - cd00590 RRM_1 - pfam00076 RRM - smart00360 HnRNPA1 - pfam11627	RefSeq Protein: NP_002127 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RRM_SF	cd00590	2.7e-26	15	88
RRM_SF	cd00590	7.4e-21	106	179
RRM_1	pfam00076	7.2e-24	16	85
RRM_1	pfam00076	1.1e-23	107	176
	smart00362	7.4e-24	15	87
RRM	smart00360	5e-26	18	87
	smart00362	5.4e-20	106	178
RRM	smart00360	5.3e-21	109	178
HnRNPA1	pfam11627	2.5e-14	257	292

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
OMIM	164017.0003	Disease	p.ASN267SER	AMYOTROPHIC LATERAL SCLEROSIS 20
OMIM	164017.0002	Disease	p.ASP262ASN	AMYOTROPHIC LATERAL SCLEROSIS 20
OMIM	164017.0001	Disease	p.ASP262VAL	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL\|\|DEMENTIA 3 (1 family)

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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