Results for the protein: Q9NYC9

Results for the Protein: Q9NYC9

311033454

1770

DNAH9

NCBI, UniProt

DYH9_HUMAN RecName: Full=Dynein heavy chain 9, axonemal; AltName: Full=Axonemal beta dynein heavy chain 9; AltName: Full=Ciliary dynein heavy chain 9

			0 22 0 14 8

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Default View: DHC_N1 - pfam08385 DHC_N2 - pfam08393 AAA_5 - pfam07728 Dynein_heavy - pfam03028	Swiss-Prot Protein: Q9NYC9 Identical to: NP_001363 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHC_N1	pfam08385	9.9e-214	210	791
DHC_N2	pfam08393	4.9e-190	1290	1703
AAA_5	pfam07728	3.3e-11	2146	2282
AAA_5	pfam07728	0.00034	2473	2610

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_046326	Polymorphism	p.ARG4443CYS	N/A
dbSNP	rs16945431	Polymorphism	p.ARG3726GLN	N/A
dbSNP	rs17599639	Polymorphism	p.ARG151HIS	N/A
Swiss-Prot	VAR_036214	Polymorphism	p.ARG771LEU	N/A
dbSNP	rs61743635	Polymorphism	p.ARG2162LYS	N/A
Swiss-Prot	VAR_046315	Polymorphism	p.ARG1158TRP	N/A
Swiss-Prot	VAR_046323	Polymorphism	p.ARG3726TRP	N/A
dbSNP	rs16945138	Polymorphism	p.ARG842TRP	N/A
dbSNP	rs3744581	Polymorphism	p.ASN2195SER	N/A
dbSNP	rs17612861	Polymorphism	p.ASP4036ASN	N/A
Swiss-Prot	VAR_036215	Polymorphism	p.ASP2653HIS	N/A
Swiss-Prot	VAR_046313	Polymorphism	p.GLN445ARG	N/A
dbSNP	rs2277658	Polymorphism	p.GLN2438HIS	N/A
dbSNP	rs61739481	Polymorphism	p.LYS1950ARG	N/A
dbSNP	rs11870983	Polymorphism	p.LYS2961ARG	N/A
dbSNP	rs11871037	Polymorphism	p.LYS2968ASN	N/A
dbSNP	rs1990236	Polymorphism	p.MET4374ILE	N/A
Swiss-Prot	VAR_046317	Polymorphism	p.MET2087VAL	N/A
dbSNP	rs9916482	Polymorphism	p.THR1221ALA	N/A
Swiss-Prot	VAR_036216	Polymorphism	p.THR3664ASN	N/A
dbSNP	rs8074656	Polymorphism	p.TRP4462ARG	N/A
dbSNP	rs61744697	Polymorphism	p.VAL2505LEU	N/A

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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