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Results for the Protein: Q5HYA8
317373389

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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Meckelin - pfam09773


Swiss-Prot Protein: Q5HYA8
Identical to: NP_714915
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Meckelinpfam09773164995

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34779331 Polymorphismp.ALA36VALN/A
Swiss-ProtVAR_063794Diseasep.ARG441CYSCOACH syndrome (COACHS)
Swiss-ProtVAR_063787Diseasep.ARG172GLNCOACH syndrome (COACHS)
Swiss-ProtVAR_062318Diseasep.ARG440GLNMeckel syndrome 3 (MKS3)
Swiss-ProtVAR_063800Diseasep.ARG820SERCOACH syndrome (COACHS)
Swiss-ProtVAR_063788Diseasep.ASN242THRCOACH syndrome (COACHS)
dbSNPrs35793208 Polymorphismp.ASP261ASNN/A
Swiss-ProtVAR_062319Diseasep.CYS615ARGNephronophthisis 11 (NPHP11)
Swiss-ProtVAR_063793Diseasep.GLN376GLUCOACH syndrome (COACHS)
Swiss-ProtVAR_025474Diseasep.GLN376PROMeckel syndrome 3 (MKS3)
Swiss-ProtVAR_063802Diseasep.GLN841PROCOACH syndrome (COACHS)
Swiss-ProtVAR_062311Polymorphismp.GLY218ALAN/A
Swiss-ProtVAR_064186Diseasep.GLY821ARGNephronophthisis 11 (NPHP11)
Swiss-ProtVAR_031988Diseasep.GLY545GLUJoubert syndrome 6 (JBTS6)
Swiss-ProtVAR_064187Diseasep.GLY821SERNephronophthisis 11 (NPHP11)
Swiss-ProtVAR_063799Diseasep.HIS782ARGCOACH syndrome (COACHS)
Swiss-ProtVAR_063801Diseasep.ILE833THRJoubert syndrome 6 (JBTS6)
dbSNPrs3134031 Polymorphismp.ILE604VALN/A
Swiss-ProtVAR_062320Diseasep.LEU966PROMeckel syndrome 3 (MKS3)
Swiss-ProtVAR_063790Diseasep.LEU349SERCOACH syndrome (COACHS)
Swiss-ProtVAR_062317Polymorphismp.LEU437VALN/A
Swiss-ProtVAR_063785Diseasep.LYS99ASNCOACH syndrome (COACHS)
Swiss-ProtVAR_062313Diseasep.MET252THRMeckel syndrome 3 (MKS3)
Swiss-ProtVAR_063789Diseasep.MET257VALCOACH syndrome (COACHS)
Swiss-ProtVAR_063803Diseasep.PHE942CYSCOACH syndrome (COACHS)
Swiss-ProtVAR_063797Diseasep.PHE637LEUCOACH syndrome (COACHS)
Swiss-ProtVAR_063796Diseasep.PHE590SERCOACH syndrome (COACHS)
Swiss-ProtVAR_063786Diseasep.PRO130ARGCOACH syndrome (COACHS)
Swiss-ProtVAR_063783Polymorphismp.PRO82ARGN/A
Swiss-ProtVAR_063791Diseasep.PRO358LEUJoubert syndrome 6 (JBTS6)
Swiss-ProtVAR_063795Diseasep.PRO485SERCOACH syndrome (COACHS)
Swiss-ProtVAR_063784Polymorphismp.PRO82SERN/A
Swiss-ProtVAR_062316Polymorphismp.SER320CYSN/A
Swiss-ProtVAR_063798Diseasep.SER728GLYCOACH syndrome (COACHS)
Swiss-ProtVAR_062312Polymorphismp.SER245PHEN/A
Swiss-ProtVAR_063792Diseasep.THR372LYSCOACH syndrome (COACHS)
Swiss-ProtVAR_062315Polymorphismp.TRP296CYSN/A
Swiss-ProtVAR_064185Diseasep.TRP290LEUNephronophthisis 11 (NPHP11)
Swiss-ProtVAR_031987Diseasep.TYR513CYSMeckel syndrome 3 (MKS3)
Swiss-ProtVAR_062310Polymorphismp.TYR54CYSN/A
OMIM609884.0011 Diseasep.ARG208TERMECKEL SYNDROME, TYPE 3||JOUBERT SYNDROME 6, INCLUDED
OMIM609884.0019 Diseasep.CYS615ARGNEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6, INCLUDED
OMIM609884.0004 Diseasep.GLN376PROMECKEL SYNDROME, TYPE 3
OMIM609884.0022 Diseasep.GLN44TERJOUBERT SYNDROME 6
OMIM609884.0021 Diseasep.GLY821ARGNEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6, INCLUDED
OMIM609884.0018 Diseasep.GLY821SERNEPHRONOPHTHISIS 11
OMIM609884.0013 Diseasep.ILE833THRCOACH SYNDROME||JOUBERT SYNDROME 6, INCLUDED
OMIM609884.0023 Diseasep.MET252THRJOUBERT SYNDROME 6
OMIM609884.0016 Diseasep.PHE590SERCOACH SYNDROME
OMIM609884.0024 Diseasep.PRO358LEUJOUBERT SYNDROME 6
OMIM609884.0012 Diseasep.SER320CYSBARDET-BIEDL SYNDROME 14, MODIFIER OF
OMIM609884.0020 Diseasep.TRP290LEUNEPHRONOPHTHISIS 11
OMIM609884.0006 Diseasep.TYR513CYSJOUBERT SYNDROME 6||COACH SYNDROME, INCLUDED



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