Results for the protein: Q9C0G6

Results for the Protein: Q9C0G6

166922150

1768

DNAH6

NCBI, UniProt

DYH6_HUMAN RecName: Full=Dynein heavy chain 6, axonemal; AltName: Full=Axonemal beta dynein heavy chain 6; AltName: Full=Ciliary dynein heavy chain 6

			0 12 0 12 0

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Default View: DHC_N2 - pfam08393 AAA_5 - pfam07728 AAA - cd00009 Dynein_heavy - pfam03028	Swiss-Prot Protein: Q9C0G6 Identical to: NP_001361 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Dynein_heavy	pfam03028	1.5e-255	3401	4155
DHC_N2	pfam08393	5e-170	877	1304
AAA_5	pfam07728	2.7e-06	1748	1893
AAA_5	pfam07728	3.4e-05	2091	2230

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17025503	Polymorphism	p.ALA2908THR	N/A
dbSNP	rs61752525	Polymorphism	p.ASN3086THR	N/A
dbSNP	rs61753860	Polymorphism	p.ASN3907THR	N/A
dbSNP	rs28375417	Polymorphism	p.GLY1694ALA	N/A
dbSNP	rs61750773	Polymorphism	p.LYS2859ARG	N/A
dbSNP	rs17025464	Polymorphism	p.SER2268ASN	N/A
dbSNP	rs61729434	Polymorphism	p.SER3881THR	N/A
dbSNP	rs61752556	Polymorphism	p.THR3776PRO	N/A
dbSNP	rs61753631	Polymorphism	p.THR4025PRO	N/A
dbSNP	rs78190897	Polymorphism	p.VAL2550ALA	N/A
dbSNP	rs1192269	Polymorphism	p.VAL2898ILE	N/A
dbSNP	rs4832089	Polymorphism	p.VAL141MET	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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