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Results for the Protein: NP_002127
4504445

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
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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 ↕
COG0724COG07242.3e-102320
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-14257292

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM164017.0003 Diseasep.ASN267SERAMYOTROPHIC LATERAL SCLEROSIS 20
OMIM164017.0002 Diseasep.ASP262ASNAMYOTROPHIC LATERAL SCLEROSIS 20
OMIM164017.0001 Diseasep.ASP262VALINCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL||DEMENTIA 3 (1 family)



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