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Results for the Protein: Q6PGP7
74758339

TTC37_HUMAN RecName: Full=Tetratricopeptide repeat protein 37; Short=TPR repeat protein 37; AltName: Full=SKI3 homolog; Short=Ski3; AltName: Full=Tricho-hepatic-enteric syndrome protein; Short=Thespin

Known Diseases associated with this Protein:
  TRICHOHEPATOENTERIC SYNDROME 1
  TRICHOHEPATOENTERIC SYNDROME 1 (THES1)
6
5
3
1
7
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Default View:

TPR - cd00189
TPR_2 - pfam07719
TPR_1 - pfam00515
NrfG - COG0457
TPR - smart00028


Swiss-Prot Protein: Q6PGP7
Identical to: NP_055454
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TPRcd001897.3e-097109
TPRcd001890.00062273382
NrfGCOG04578.8e-25364703
TPRcd001891e-09387491
TPRcd001899.7e-09494596
TPRcd001895e-18599696
NrfGCOG04577.5e-127211081
TPRcd001898.4e-13784893
TPRcd001893.5e-0510521154
TPR_1pfam005156e-054073
TPR_1pfam005151e-05564597
TPR_1pfam005151.5e-07861894
TPR_1pfam005150.0008914001433
TPR_2pfam077190.000224073
TPR_2pfam077190.00015420453
TPRsmart000280.00062420453
TPR_2pfam077190.00014564597
TPRsmart000287.6e-05564597
TPRsmart000280.00019598631
TPR_2pfam077190.00011861894
TPRsmart000281.9e-05861894

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065298Polymorphismp.ALA1077ASPN/A
Swiss-ProtVAR_027706Polymorphismp.ARG1296SERN/A
Swiss-ProtVAR_067958Diseasep.ASP1283ASNTrichohepatoenteric syndrome 1 (THES1)
Swiss-ProtVAR_067957Diseasep.GLY251ARGTrichohepatoenteric syndrome 1 (THES1)
Swiss-ProtVAR_065300Polymorphismp.LEU1485ARGN/A
Swiss-ProtVAR_067959Diseasep.LEU1505SERTrichohepatoenteric syndrome 1 (THES1)
dbSNPrs17084873 Polymorphismp.LEU437VALN/A
Swiss-ProtVAR_065299Polymorphismp.PRO1270ALAN/A
OMIM614589.0004 Diseasep.GLN147TERTRICHOHEPATOENTERIC SYNDROME 1
OMIM614589.0005 Diseasep.GLN751TERTRICHOHEPATOENTERIC SYNDROME 1
OMIM614589.0001 Diseasep.TRP936TERTRICHOHEPATOENTERIC SYNDROME 1



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