Results for the protein: Q5HYA8

Results for the Protein: Q5HYA8

317373389

91147

TMEM67

NCBI, UniProt

MKS3_HUMAN RecName: Full=Meckelin; AltName: Full=Meckel syndrome type 3 protein; AltName: Full=Transmembrane protein 67

Known Diseases associated with this Protein:
  BARDET-BIEDL SYNDROME 14, MODIFIER OF
  COACH SYNDROME
  COACH SYNDROME (COACHS)
  COACH SYNDROME, INCLUDED
  JOUBERT SYNDROME 6
  JOUBERT SYNDROME 6 (JBTS6)
  JOUBERT SYNDROME 6, INCLUDED
  MECKEL SYNDROME 3 (MKS3)
  MECKEL SYNDROME, TYPE 3
  NEPHRONOPHTHISIS 11
  NEPHRONOPHTHISIS 11 (NPHP11)

42

11

13

3

37

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Default View: Meckelin - pfam09773	Swiss-Prot Protein: Q5HYA8 Identical to: NP_714915 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34779331	Polymorphism	p.ALA36VAL	N/A
Swiss-Prot	VAR_063794	Disease	p.ARG441CYS	COACH syndrome (COACHS)
Swiss-Prot	VAR_063787	Disease	p.ARG172GLN	COACH syndrome (COACHS)
Swiss-Prot	VAR_062318	Disease	p.ARG440GLN	Meckel syndrome 3 (MKS3)
Swiss-Prot	VAR_063800	Disease	p.ARG820SER	COACH syndrome (COACHS)
Swiss-Prot	VAR_063788	Disease	p.ASN242THR	COACH syndrome (COACHS)
dbSNP	rs35793208	Polymorphism	p.ASP261ASN	N/A
Swiss-Prot	VAR_062319	Disease	p.CYS615ARG	Nephronophthisis 11 (NPHP11)
Swiss-Prot	VAR_063793	Disease	p.GLN376GLU	COACH syndrome (COACHS)
Swiss-Prot	VAR_025474	Disease	p.GLN376PRO	Meckel syndrome 3 (MKS3)
Swiss-Prot	VAR_063802	Disease	p.GLN841PRO	COACH syndrome (COACHS)
Swiss-Prot	VAR_062311	Polymorphism	p.GLY218ALA	N/A
Swiss-Prot	VAR_064186	Disease	p.GLY821ARG	Nephronophthisis 11 (NPHP11)
Swiss-Prot	VAR_031988	Disease	p.GLY545GLU	Joubert syndrome 6 (JBTS6)
Swiss-Prot	VAR_064187	Disease	p.GLY821SER	Nephronophthisis 11 (NPHP11)
Swiss-Prot	VAR_063799	Disease	p.HIS782ARG	COACH syndrome (COACHS)
Swiss-Prot	VAR_063801	Disease	p.ILE833THR	Joubert syndrome 6 (JBTS6)
dbSNP	rs3134031	Polymorphism	p.ILE604VAL	N/A
Swiss-Prot	VAR_062320	Disease	p.LEU966PRO	Meckel syndrome 3 (MKS3)
Swiss-Prot	VAR_063790	Disease	p.LEU349SER	COACH syndrome (COACHS)
Swiss-Prot	VAR_062317	Polymorphism	p.LEU437VAL	N/A
Swiss-Prot	VAR_063785	Disease	p.LYS99ASN	COACH syndrome (COACHS)
Swiss-Prot	VAR_062313	Disease	p.MET252THR	Meckel syndrome 3 (MKS3)
Swiss-Prot	VAR_063789	Disease	p.MET257VAL	COACH syndrome (COACHS)
Swiss-Prot	VAR_063803	Disease	p.PHE942CYS	COACH syndrome (COACHS)
Swiss-Prot	VAR_063797	Disease	p.PHE637LEU	COACH syndrome (COACHS)
Swiss-Prot	VAR_063796	Disease	p.PHE590SER	COACH syndrome (COACHS)
Swiss-Prot	VAR_063786	Disease	p.PRO130ARG	COACH syndrome (COACHS)
Swiss-Prot	VAR_063783	Polymorphism	p.PRO82ARG	N/A
Swiss-Prot	VAR_063791	Disease	p.PRO358LEU	Joubert syndrome 6 (JBTS6)
Swiss-Prot	VAR_063795	Disease	p.PRO485SER	COACH syndrome (COACHS)
Swiss-Prot	VAR_063784	Polymorphism	p.PRO82SER	N/A
Swiss-Prot	VAR_062316	Polymorphism	p.SER320CYS	N/A
Swiss-Prot	VAR_063798	Disease	p.SER728GLY	COACH syndrome (COACHS)
Swiss-Prot	VAR_062312	Polymorphism	p.SER245PHE	N/A
Swiss-Prot	VAR_063792	Disease	p.THR372LYS	COACH syndrome (COACHS)
Swiss-Prot	VAR_062315	Polymorphism	p.TRP296CYS	N/A
Swiss-Prot	VAR_064185	Disease	p.TRP290LEU	Nephronophthisis 11 (NPHP11)
Swiss-Prot	VAR_031987	Disease	p.TYR513CYS	Meckel syndrome 3 (MKS3)
Swiss-Prot	VAR_062310	Polymorphism	p.TYR54CYS	N/A
OMIM	609884.0011	Disease	p.ARG208TER	MECKEL SYNDROME, TYPE 3\|\|JOUBERT SYNDROME 6, INCLUDED
OMIM	609884.0019	Disease	p.CYS615ARG	NEPHRONOPHTHISIS 11\|\|JOUBERT SYNDROME 6, INCLUDED
OMIM	609884.0004	Disease	p.GLN376PRO	MECKEL SYNDROME, TYPE 3
OMIM	609884.0022	Disease	p.GLN44TER	JOUBERT SYNDROME 6
OMIM	609884.0021	Disease	p.GLY821ARG	NEPHRONOPHTHISIS 11\|\|JOUBERT SYNDROME 6, INCLUDED
OMIM	609884.0018	Disease	p.GLY821SER	NEPHRONOPHTHISIS 11
OMIM	609884.0013	Disease	p.ILE833THR	COACH SYNDROME\|\|JOUBERT SYNDROME 6, INCLUDED
OMIM	609884.0023	Disease	p.MET252THR	JOUBERT SYNDROME 6
OMIM	609884.0016	Disease	p.PHE590SER	COACH SYNDROME
OMIM	609884.0024	Disease	p.PRO358LEU	JOUBERT SYNDROME 6
OMIM	609884.0012	Disease	p.SER320CYS	BARDET-BIEDL SYNDROME 14, MODIFIER OF
OMIM	609884.0020	Disease	p.TRP290LEU	NEPHRONOPHTHISIS 11
OMIM	609884.0006	Disease	p.TYR513CYS	JOUBERT SYNDROME 6\|\|COACH SYNDROME, INCLUDED

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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