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Results for the Protein: Q9ULT0
34223742

TTC7A_HUMAN RecName: Full=Tetratricopeptide repeat protein 7A; Short=TPR repeat protein 7A

Known Diseases associated with this Protein:
  INTESTINAL ATRESIA, MULTIPLE
  INTESTINAL ATRESIA, MULTIPLE (MINAT)
2
2
1
2
1
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Default View:

NrfG - COG0457
TPR - cd00189
TPR - smart00028
TPR_2 - pfam07719


Swiss-Prot Protein: Q9ULT0
Identical to: NP_065191
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TPRcd001891.2e-06497598
TPRcd001898.1e-16746845
TPR_2pfam077197.1e-05745778
TPRsmart000280.00049745778
TPR_2pfam077190.00033813846
TPRsmart000284.6e-05813846

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069636Diseasep.LEU823PROIntestinal atresia, multiple (MINAT)
dbSNPrs6755258 Polymorphismp.VAL545ILEN/A
dbSNPrs2304290 Polymorphismp.VAL538LEUN/A
OMIM609332.0002 Diseasep.LEU823PROINTESTINAL ATRESIA, MULTIPLE



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