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Results for the Protein: Q13424
23822157

SNTA1_HUMAN RecName: Full=Alpha-1-syntrophin; AltName: Full=59 kDa dystrophin-associated protein A1 acidic component 1; AltName: Full=Pro-TGF-alpha cytoplasmic domain-interacting protein 1; Short=TACIP1; AltName: Full=Syntrophin-1

Known Diseases associated with this Protein:
  LONG QT SYNDROME 12
  LONG QT SYNDROME 12 (LQT12)
3
1
1
0
3
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Default View:

PH - smart00233
PDZ - smart00228
PDZ_signaling - cd00992
PDZ - pfam00595
PDZ - cd00136
PH - pfam00169
PHsplit_syntrophin - cd01258


Swiss-Prot Protein: Q13424
Identical to: NP_003089
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PDZ_signalingcd009921.5e-2885167
PDZcd001366.7e-1596167
PHsplit_syntrophincd012581.8e-18296399
PDZpfam005954.1e-1987167
PHpfam001695.7e-06294401
PHsmart002332.7e-417269
PDZsmart002283e-2484170

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062399Diseasep.ALA257GLYLong QT syndrome 12 (LQT12)
Swiss-ProtVAR_062400Diseasep.ALA390VALLong QT syndrome 12 (LQT12)
Swiss-ProtVAR_014075Polymorphismp.LEU364PHEN/A
OMIM601017.0001 Diseasep.ALA390VALLONG QT SYNDROME 12



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