Results for the protein: Q9P2D7

Results for the Protein: Q9P2D7

327478598

25981

DNAH1

NCBI, UniProt

DYH1_HUMAN RecName: Full=Dynein heavy chain 1, axonemal; AltName: Full=Axonemal beta dynein heavy chain 1; AltName: Full=Ciliary dynein heavy chain 1; AltName: Full=Heat shock regulated protein 1; Short=HSRF-1; AltName: Full=hDHC7

			0 6 0 0 6

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Default View: DHC_N2 - pfam08393 AAA_5 - pfam07728 Dynein_heavy - pfam03028	Swiss-Prot Protein: Q9P2D7 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHC_N2	pfam08393	7.2e-207	1011	1421
AAA_5	pfam07728	2.3e-05	1857	2003
AAA_5	pfam07728	0.00033	2222	2361

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038915	Polymorphism	p.ARG1663CYS	N/A
Swiss-Prot	VAR_062176	Polymorphism	p.ASN2384SER	N/A
Swiss-Prot	VAR_038912	Polymorphism	p.GLU205ASP	N/A
Swiss-Prot	VAR_064924	Polymorphism	p.HIS3897ARG	N/A
Swiss-Prot	VAR_038913	Polymorphism	p.VAL441LEU	N/A
Swiss-Prot	VAR_038914	Polymorphism	p.VAL1502MET	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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