Results for the protein: Q96MC2

Results for the Protein: Q96MC2

126215680

92749

DRC1

NCBI, UniProt

DRC1_HUMAN RecName: Full=Dynein regulatory complex protein 1; AltName: Full=Coiled-coil domain-containing protein 164

Known Diseases associated with this Protein:
CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS

2

10

2

5

5

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Default View:	Swiss-Prot Protein: Q96MC2 Identical to: NP_659475 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	rs3795958	Polymorphism	p.LYS357GLU	N/A
dbSNP	rs3172008	Polymorphism	p.SER702ILE	N/A
dbSNP	rs74936036	Polymorphism	p.TYR58HIS	N/A
dbSNP	rs35313480	Polymorphism	p.VAL734MET	N/A
dbSNP	rs12623642	Polymorphism	p.VAL633PHE	N/A
Swiss-Prot	VAR_030625	Polymorphism	p.LYS357GLU	N/A
Swiss-Prot	VAR_030628	Polymorphism	p.SER702ILE	N/A
Swiss-Prot	VAR_030626	Polymorphism	p.TRP399ARG	N/A
Swiss-Prot	VAR_057758	Polymorphism	p.VAL734MET	N/A
Swiss-Prot	VAR_030627	Polymorphism	p.VAL633PHE	N/A
OMIM	615288.0002	Disease	p.GLN118TER	CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS
OMIM	615288.0001	Disease	p.LYS686TER	CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS

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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