Results for the protein: Q6PGP7

Results for the Protein: Q6PGP7

74758339

9652

TTC37

NCBI, UniProt

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 ↕
TPR	cd00189	0.00062	273	382
NrfG	COG0457	8.8e-25	364	703
TPR	cd00189	1e-09	387	491
TPR	cd00189	9.7e-09	494	596
TPR	cd00189	5e-18	599	696
NrfG	COG0457	7.5e-12	721	1081
TPR	cd00189	8.4e-13	784	893
TPR	cd00189	3.5e-05	1052	1154
TPR_1	pfam00515	6e-05	40	73
TPR_1	pfam00515	1e-05	564	597
TPR_1	pfam00515	1.5e-07	861	894
TPR_1	pfam00515	0.00089	1400	1433
TPR_2	pfam07719	0.00022	40	73
TPR_2	pfam07719	0.00015	420	453
TPR	smart00028	0.00062	420	453
TPR_2	pfam07719	0.00014	564	597
TPR	smart00028	7.6e-05	564	597
TPR	smart00028	0.00019	598	631
TPR_2	pfam07719	0.00011	861	894
TPR	smart00028	1.9e-05	861	894

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065298	Polymorphism	p.ALA1077ASP	N/A
Swiss-Prot	VAR_027706	Polymorphism	p.ARG1296SER	N/A
Swiss-Prot	VAR_067958	Disease	p.ASP1283ASN	Trichohepatoenteric syndrome 1 (THES1)
Swiss-Prot	VAR_067957	Disease	p.GLY251ARG	Trichohepatoenteric syndrome 1 (THES1)
Swiss-Prot	VAR_065300	Polymorphism	p.LEU1485ARG	N/A
Swiss-Prot	VAR_067959	Disease	p.LEU1505SER	Trichohepatoenteric syndrome 1 (THES1)
dbSNP	rs17084873	Polymorphism	p.LEU437VAL	N/A
Swiss-Prot	VAR_065299	Polymorphism	p.PRO1270ALA	N/A
OMIM	614589.0004	Disease	p.GLN147TER	TRICHOHEPATOENTERIC SYNDROME 1
OMIM	614589.0005	Disease	p.GLN751TER	TRICHOHEPATOENTERIC SYNDROME 1
OMIM	614589.0001	Disease	p.TRP936TER	TRICHOHEPATOENTERIC SYNDROME 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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