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Results for the Protein: P09651
288558857

ROA1_HUMAN RecName: Full=Heterogeneous nuclear ribonucleoprotein A1; Short=hnRNP A1; AltName: Full=Helix-destabilizing protein; AltName: Full=Single-strand RNA-binding protein; AltName: Full=hnRNP core protein A1; Contains: RecName: Full=Heterogeneous nuclear ribonucleoprotein A1, N-terminally processed

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
1
3
0
1
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Default View:

COG0724 - COG0724
- smart00362
RRM_SF - cd00590
RRM_1 - pfam00076
RRM - smart00360
HnRNPA1 - pfam11627


Swiss-Prot Protein: P09651
Identical to: NP_112420
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG0724COG07243.3e-092292
RRM_SFcd005902.7e-261588
RRM_SFcd005907.4e-21106179
RRM_1pfam000767.2e-241685
RRM_1pfam000761.1e-23107176
smart003627.4e-241587
RRMsmart003605e-261887
smart003625.4e-20106178
RRMsmart003605.3e-21109178
HnRNPA1pfam116272.5e-13310344

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_014711Polymorphismp.ASN73SERN/A
OMIM164017.0003 Diseasep.ASN319SERAMYOTROPHIC LATERAL SCLEROSIS 20
OMIM164017.0002 Diseasep.ASP314ASNAMYOTROPHIC LATERAL SCLEROSIS 20
OMIM164017.0001 Diseasep.ASP314VALINCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL||DEMENTIA 3 (1 family)



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