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Results for the Protein: P31483
206729905

TIA1_HUMAN RecName: Full=Nucleolysin TIA-1 isoform p40; AltName: Full=RNA-binding protein TIA-1; AltName: Full=T-cell-restricted intracellular antigen-1; Short=TIA-1; AltName: Full=p40-TIA-1

Known Diseases associated with this Protein:
  WELANDER DISTAL MYOPATHY
  WELANDER DISTAL MYOPATHY (WDM)
2
0
1
0
1
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Default View:

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


Swiss-Prot Protein: P31483
Identical to: NP_071505
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RRM_SFcd005908.1e-25880
RRM_SFcd005903.3e-26107181
RRM_SFcd005901.3e-18215283
RRM_1pfam000761.3e-26977
RRM_1pfam000768.5e-30108178
RRM_1pfam000761.7e-21216280
smart003623.6e-24879
RRMsmart003601.5e-221179
smart003623.2e-28107180
RRMsmart003603.3e-26110180
smart003621e-17215282
RRMsmart003604.4e-16218282

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069897Diseasep.GLU384LYSWelander distal myopathy (WDM)
OMIM603518.0001 Diseasep.GLU384LYSWELANDER DISTAL MYOPATHY



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