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Results for the Protein: P0DI81
347662477

TPC2A_HUMAN RecName: Full=Trafficking protein particle complex subunit 2; AltName: Full=Sedlin

Known Diseases associated with this Protein:
  SPONDYLOEPIPHYSEAL DYSPLASIA TARDA (SEDT)
4
0
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0
4
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Default View:

TRS20 - COG5603
Sedlin_N - pfam04628


Swiss-Prot Protein: P0DI81
Identical to: NP_055378, NP_001011658
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TRS20COG56038.9e-406138
Sedlin_Npfam046282.3e-749136

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012358Diseasep.ASP47TYRSpondyloepiphyseal dysplasia tarda (SEDT)
Swiss-ProtVAR_012361Diseasep.PHE83SERSpondyloepiphyseal dysplasia tarda (SEDT)
Swiss-ProtVAR_012359Diseasep.SER73LEUSpondyloepiphyseal dysplasia tarda (SEDT)
Swiss-ProtVAR_012360Diseasep.VAL130ASPSpondyloepiphyseal dysplasia tarda (SEDT)



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