Results for the protein: P57679

Results for the Protein: P57679

12229783

2121

EVC

NCBI, UniProt

EVC_HUMAN RecName: Full=Ellis-van Creveld syndrome protein; AltName: Full=DWF-1

Known Diseases associated with this Protein:
  ACROFACIAL DYSOSTOSIS, WEYERS TYPE (WAD)
  ELLIS-VAN CREVELD SYNDROME
  ELLIS-VAN CREVELD SYNDROME (EVC)
  WEYERS ACRODENTAL DYSOSTOSIS

8

15

4

13

6

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Default View:	Swiss-Prot Protein: P57679 Identical to: NP_714928 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	rs16837598	Polymorphism	p.ALA114GLY	N/A
Swiss-Prot	VAR_033852	Polymorphism	p.ALA114VAL	N/A
dbSNP	rs35953626	Disease	p.ARG443GLN	Ellis-van Creveld syndrome (EVC)
dbSNP	rs1383180	Polymorphism	p.ARG576GLN	N/A
dbSNP	rs2279252	Polymorphism	p.ARG760GLN	N/A
dbSNP	rs73795088	Polymorphism	p.ARG788HIS	N/A
dbSNP	rs35287723	Polymorphism	p.ASP958ASN	N/A
Swiss-Prot	VAR_009950	Polymorphism	p.ASP953GLY	N/A
dbSNP	rs2291157	Polymorphism	p.GLN74PRO	N/A
Swiss-Prot	VAR_009945	Polymorphism	p.GLY403SER	N/A
dbSNP	rs6446393	Polymorphism	p.LEU257ILE	N/A
dbSNP	rs6854138	Polymorphism	p.LEU366MET	N/A
Swiss-Prot	VAR_066448	Disease	p.LEU623PRO	Ellis-van Creveld syndrome (EVC)
dbSNP	rs60582583	Polymorphism	p.PHE440LEU	N/A
Swiss-Prot	VAR_066447	Disease	p.SER206ASN	Ellis-van Creveld syndrome (EVC)
Swiss-Prot	VAR_009944	Disease	p.SER307PRO	Acrofacial dysostosis, Weyers type (WAD)
dbSNP	rs2302075	Polymorphism	p.THR449LYS	N/A
dbSNP	rs28483498	Polymorphism	p.THR372MET	N/A
dbSNP	rs6414624	Polymorphism	p.TYR258HIS	N/A
OMIM	604831.0005	Disease	p.ARG443GLN	ELLIS-VAN CREVELD SYNDROME
OMIM	604831.0003	Disease	p.ARG340TER	ELLIS-VAN CREVELD SYNDROME
OMIM	604831.0002	Disease	p.GLN879TER	ELLIS-VAN CREVELD SYNDROME
OMIM	604831.0006	Disease	p.SER307PRO	WEYERS ACRODENTAL DYSOSTOSIS\|\|ELLIS-VAN CREVELD SYNDROME

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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