Results for the protein: Q8NEP3

Results for the Protein: Q8NEP3

215274261

123872

DNAAF1

NCBI, UniProt

DAAF1_HUMAN RecName: Full=Dynein assembly factor 1, axonemal; AltName: Full=Leucine-rich repeat-containing protein 50

Known Diseases associated with this Protein:
CILIARY DYSKINESIA, PRIMARY, 13
CILIARY DYSKINESIA, PRIMARY, 13 (CILD13)

4

12

3

8

5

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Default View: LRR_SD22 - smart00365	Swiss-Prot Protein: Q8NEP3 Identical to: NP_848547 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	rs36062234	Polymorphism	p.ASP387GLU	N/A
dbSNP	rs9972733	Polymorphism	p.GLU432ASP	N/A
Swiss-Prot	VAR_047671	Polymorphism	p.GLY703ARG	N/A
Swiss-Prot	VAR_063098	Disease	p.LEU175ARG	Ciliary dyskinesia, primary, 13 (CILD13)
dbSNP	rs2288022	Polymorphism	p.LEU659GLN	N/A
Swiss-Prot	VAR_047668	Polymorphism	p.LEU659PRO	N/A
dbSNP	rs2288020	Polymorphism	p.LEU633SER	N/A
dbSNP	rs2288021	Polymorphism	p.LEU659VAL	N/A
dbSNP	rs17856705	Polymorphism	p.LYS393ARG	N/A
Swiss-Prot	VAR_047666	Polymorphism	p.PHE545CYS	N/A
Swiss-Prot	VAR_047672	Polymorphism	p.PRO712ALA	N/A
dbSNP	rs11644164	Polymorphism	p.PRO502LEU	N/A
dbSNP	rs2288023	Polymorphism	p.SER675THR	N/A
OMIM	613190.0002	Disease	p.ARG271TER	CILIARY DYSKINESIA, PRIMARY, 13
OMIM	613190.0005	Disease	p.LEU175ARG	CILIARY DYSKINESIA, PRIMARY, 13
OMIM	613190.0003	Disease	p.TYR264TER	CILIARY DYSKINESIA, PRIMARY, 13

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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