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Results for the Protein: P49638
1351322

TTPA_HUMAN RecName: Full=Alpha-tocopherol transfer protein; Short=Alpha-TTP

Known Diseases associated with this Protein:
  ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
  ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY (AVED)
  ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
10
1
3
0
8
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Default View:

CRAL_TRIO_N - pfam03765
SEC14 - cd00170
SEC14 - smart00516
CRAL_TRIO - pfam00650


Swiss-Prot Protein: P49638
Identical to: NP_000361
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SEC14cd001701.3e-4290248
CRAL_TRIO_Npfam037655.3e-102573
CRAL_TRIOpfam006502.7e-40114248
SEC14smart005161.6e-4292250

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022389Diseasep.ALA120THRAtaxia with isolated vitamin E deficiency (AVED)
Swiss-ProtVAR_007858Diseasep.ARG192HISAtaxia with isolated vitamin E deficiency (AVED)
Swiss-ProtVAR_022391Diseasep.ARG221TRPAtaxia with isolated vitamin E deficiency (AVED)
Swiss-ProtVAR_022388Diseasep.ARG59TRPAtaxia with isolated vitamin E deficiency (AVED)
Swiss-ProtVAR_022390Diseasep.GLU141LYSAtaxia with isolated vitamin E deficiency (AVED)
Swiss-ProtVAR_022392Diseasep.GLY246ARGAtaxia with isolated vitamin E deficiency (AVED)
Swiss-ProtVAR_005668Diseasep.HIS101GLNAtaxia with isolated vitamin E deficiency (AVED)
Swiss-ProtVAR_037973Polymorphismp.THR172SERN/A
OMIM600415.0005 Diseasep.ARG192HISATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
OMIM600415.0006 Diseasep.ARG134TERATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
OMIM600415.0002 Diseasep.HIS101GLNATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY



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