Results for the protein: Q86UK5

Results for the Protein: Q86UK5

38257827

132884

EVC2

NCBI, UniProt

LBN_HUMAN RecName: Full=Limbin; AltName: Full=Ellis-van Creveld syndrome protein 2; Short=EVC2; Flags: Precursor

Known Diseases associated with this Protein:
ELLIS-VAN CREVELD SYNDROME
ELLIS-VAN CREVELD SYNDROME (EVC)

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Default View: EVC2_like - pfam12297	Swiss-Prot Protein: Q86UK5 Identical to: NP_667338 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 ↕
Swiss-Prot	VAR_035933	Polymorphism	p.ALA630SER	N/A
Swiss-Prot	VAR_017211	Disease	p.ARG950TRP	Ellis-van Creveld syndrome (EVC)
Swiss-Prot	VAR_017209	Disease	p.ILE283ARG	Ellis-van Creveld syndrome (EVC)
dbSNP	rs6820907	Polymorphism	p.LEU18PHE	N/A
dbSNP	rs75829835	Polymorphism	p.LEU1014VAL	N/A
Swiss-Prot	VAR_035934	Polymorphism	p.LEU994VAL	N/A
dbSNP	rs4689278	Polymorphism	p.SER230GLY	N/A
dbSNP	rs60809236	Polymorphism	p.SER1008LEU	N/A
dbSNP	rs730469	Polymorphism	p.THR699ALA	N/A
OMIM	607261.0004	Disease	p.ARG399TER	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0011	Disease	p.ARG884TER	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0008	Disease	p.ARG870TRP	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0007	Disease	p.GLN1009TER	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0005	Disease	p.GLN619TER	ELLIS-VAN CREVELD SYNDROME
OMIM	607261.0006	Disease	p.ILE283ARG	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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