Results for the protein: Q9P219

Results for the Protein: Q9P219

308153605

440193

CCDC88C

NCBI, UniProt

DAPLE_HUMAN RecName: Full=Protein Daple; AltName: Full=Coiled-coil domain-containing protein 88C; AltName: Full=Dvl-associating protein with a high frequency of leucine residues; Short=hDaple; AltName: Full=Hook-related protein 2; Short=HkRP2

Known Diseases associated with this Protein:
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE

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Default View: HOOK - pfam05622	Swiss-Prot Protein: Q9P219 Identical to: NP_001073883 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_046613	Polymorphism	p.ALA811GLU	N/A
Swiss-Prot	VAR_046614	Polymorphism	p.ALA1028VAL	N/A
dbSNP	rs115510695	Polymorphism	p.ARG1630HIS	N/A
dbSNP	rs116571924	Polymorphism	p.GLN1140ARG	N/A
Swiss-Prot	VAR_046615	Polymorphism	p.LEU1992PRO	N/A
dbSNP	rs7160308	Polymorphism	p.LEU637VAL	N/A
OMIM	611204.0002	Disease	p.ARG312TER	HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE

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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