Results for the protein: Q96JB1

Results for the Protein: Q96JB1

124007137

1769

DNAH8

NCBI, UniProt

DYH8_HUMAN RecName: Full=Dynein heavy chain 8, axonemal; AltName: Full=Axonemal beta dynein heavy chain 8; AltName: Full=Ciliary dynein heavy chain 8

			0 10 0 0 10

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Default View: DHC_N1 - pfam08385 DHC_N2 - pfam08393 AAA_5 - pfam07728 Dynein_heavy - pfam03028	Swiss-Prot Protein: Q96JB1 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHC_N1	pfam08385	9.6e-146	135	695
DHC_N2	pfam08393	7.3e-165	1266	1678
AAA_5	pfam07728	1.1e-05	2123	2259
AAA_5	pfam07728	0.00015	2451	2590

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_030174	Polymorphism	p.ALA727THR	N/A
Swiss-Prot	VAR_030171	Polymorphism	p.ASN71SER	N/A
Swiss-Prot	VAR_030176	Polymorphism	p.GLU1202LYS	N/A
Swiss-Prot	VAR_030172	Polymorphism	p.GLY473ARG	N/A
Swiss-Prot	VAR_030175	Polymorphism	p.GLY807GLU	N/A
Swiss-Prot	VAR_030179	Polymorphism	p.ILE4271VAL	N/A
Swiss-Prot	VAR_030173	Polymorphism	p.ILE573VAL	N/A
Swiss-Prot	VAR_030177	Polymorphism	p.THR2444ASN	N/A
Swiss-Prot	VAR_036213	Polymorphism	p.THR2226MET	N/A
Swiss-Prot	VAR_030178	Polymorphism	p.THR4106MET	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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