Results for the protein: Q7Z4L5

Results for the Protein: Q7Z4L5

313104038

79809

TTC21B

NCBI, UniProt

TT21B_HUMAN RecName: Full=Tetratricopeptide repeat protein 21B; Short=TPR repeat protein 21B

Known Diseases associated with this Protein:
  ASPHYXIATING THORACIC DYSTROPHY 4
  ASPHYXIATING THORACIC DYSTROPHY 4 (ATD4)
  BARDET-BIEDL SYNDROME (BBS)
  JOUBERT SYNDROME 11 (JBTS11)
  NEPHRONOPHTHISIS 12
  NEPHRONOPHTHISIS 12 (NPHP12)

21

29

4

4

42

Tips:

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Default View: NrfG - COG0457 TPR - cd00189 TPR_2 - pfam07719 TPR - smart00028 TPR_1 - pfam00515	Swiss-Prot Protein: Q7Z4L5 Identical to: NP_079029 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
NrfG	COG0457	8.2e-13	391	819
TPR	cd00189	2.3e-07	493	595
TPR	cd00189	2.4e-11	723	821
NrfG	COG0457	1.2e-11	829	1227
TPR	cd00189	9.6e-06	953	1055
TPR	cd00189	2.1e-05	1158	1263
TPR_1	pfam00515	9.9e-06	722	755
TPR_2	pfam07719	6.9e-05	722	755
TPR	smart00028	3.9e-05	722	755
TPR_2	pfam07719	0.001	884	917

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065524	Polymorphism	p.ALA327SER	N/A
Swiss-Prot	VAR_065531	Polymorphism	p.ARG616CYS	N/A
Swiss-Prot	VAR_065539	Disease	p.ARG867CYS	Joubert syndrome 11 (JBTS11)
Swiss-Prot	VAR_065542	Polymorphism	p.ARG939GLN	N/A
Swiss-Prot	VAR_065553	Polymorphism	p.ARG1311GLY	N/A
Swiss-Prot	VAR_065526	Disease	p.ARG411GLY	Bardet-Biedl syndrome (BBS)
Swiss-Prot	VAR_065540	Polymorphism	p.ARG867HIS	N/A
Swiss-Prot	VAR_065543	Polymorphism	p.ARG939TRP	N/A
Swiss-Prot	VAR_065547	Polymorphism	p.ASP1041ASN	N/A
Swiss-Prot	VAR_065521	Polymorphism	p.ASP242ASN	N/A
Swiss-Prot	VAR_065528	Polymorphism	p.ASP424GLU	N/A
Swiss-Prot	VAR_065552	Polymorphism	p.ASP1284HIS	N/A
Swiss-Prot	VAR_065536	Disease	p.ASP755TYR	Asphyxiating thoracic dystrophy 4 (ATD4)
Swiss-Prot	VAR_065527	Polymorphism	p.GLN412ARG	N/A
Swiss-Prot	VAR_065541	Polymorphism	p.GLN869ARG	N/A
Swiss-Prot	VAR_065519	Polymorphism	p.GLN222LEU	N/A
Swiss-Prot	VAR_065529	Disease	p.HIS566ARG	Nephronophthisis 12 (NPHP12)
Swiss-Prot	VAR_065533	Polymorphism	p.HIS645ARG	N/A
Swiss-Prot	VAR_065551	Disease	p.ILE1208SER	Bardet-Biedl syndrome (BBS)
Swiss-Prot	VAR_065532	Polymorphism	p.ILE624VAL	N/A
dbSNP	rs2163649	Polymorphism	p.LEU473PHE	N/A
Swiss-Prot	VAR_065537	Disease	p.LEU795PRO	Asphyxiating thoracic dystrophy 4 (ATD4)
Swiss-Prot	VAR_065544	Polymorphism	p.LEU1002VAL	N/A
Swiss-Prot	VAR_065515	Polymorphism	p.LYS66ARG	N/A
Swiss-Prot	VAR_032892	Polymorphism	p.LYS846ARG	N/A
Swiss-Prot	VAR_065517	Disease	p.LYS157GLU	Bardet-Biedl syndrome (BBS)
Swiss-Prot	VAR_068172	Disease	p.MET1011THR	Joubert syndrome 11 (JBTS11)
Swiss-Prot	VAR_065545	Polymorphism	p.MET1011VAL	N/A
Swiss-Prot	VAR_065550	Disease	p.MET1186VAL	Joubert syndrome 11 (JBTS11)
dbSNP	rs112868646	Polymorphism	p.MET280VAL	N/A
Swiss-Prot	VAR_065538	Polymorphism	p.MET844VAL	N/A
Swiss-Prot	VAR_065514	Polymorphism	p.PHE60TYR	N/A
Swiss-Prot	VAR_065518	Disease	p.PRO209LEU	Nephronophthisis 12 (NPHP12)
Swiss-Prot	VAR_065535	Disease	p.PRO753LEU	Nephronophthisis 12 (NPHP12)
dbSNP	rs16851307	Polymorphism	p.PRO463SER	N/A
Swiss-Prot	VAR_065530	Disease	p.SER591ASN	Joubert syndrome 11 (JBTS11)
Swiss-Prot	VAR_065534	Polymorphism	p.SER724THR	N/A
Swiss-Prot	VAR_032889	Polymorphism	p.THR276ALA	N/A
Swiss-Prot	VAR_065548	Disease	p.THR1103ARG	Bardet-Biedl syndrome (BBS)
Swiss-Prot	VAR_065520	Disease	p.THR231SER	Nephronophthisis 12 (NPHP12)
Swiss-Prot	VAR_065516	Disease	p.TRP150ARG	Nephronophthisis 12 (NPHP12)
Swiss-Prot	VAR_065546	Polymorphism	p.TYR1035CYS	N/A
Swiss-Prot	VAR_065549	Disease	p.TYR1167CYS	Nephronophthisis 12 (NPHP12)
Swiss-Prot	VAR_065522	Disease	p.TYR255CYS	Bardet-Biedl syndrome (BBS)
Swiss-Prot	VAR_065525	Polymorphism	p.TYR347CYS	N/A
dbSNP	rs1432273	Polymorphism	p.VAL201MET	N/A
OMIM	612014.0004	Disease	p.ARG411TER	ASPHYXIATING THORACIC DYSTROPHY 4
OMIM	612014.0002	Disease	p.CYS552TER	NEPHRONOPHTHISIS 12
OMIM	612014.0005	Disease	p.LEU795PRO	ASPHYXIATING THORACIC DYSTROPHY 4
OMIM	612014.0001	Disease	p.PRO209LEU	NEPHRONOPHTHISIS 12

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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