Results for the protein: Q96DT5

Results for the Protein: Q96DT5

311033455

8701

DNAH11

NCBI, UniProt

DYH11_HUMAN RecName: Full=Dynein heavy chain 11, axonemal; AltName: Full=Axonemal beta dynein heavy chain 11; AltName: Full=Ciliary dynein heavy chain 11

Known Diseases associated with this Protein:
CILIARY DYSKINESIA, PRIMARY, 7 (CILD7)

1

16

0

0

17

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Default View: DHC_N1 - pfam08385 DHC_N2 - pfam08393 AAA_5 - pfam07728 Dynein_heavy - pfam03028	Swiss-Prot Protein: Q96DT5 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHC_N1	pfam08385	6.3e-231	236	814
DHC_N2	pfam08393	6.4e-159	1314	1731
AAA_5	pfam07728	0.00097	1898	2020
AAA_5	pfam07728	4.8e-10	2176	2321
AAA_5	pfam07728	0.00045	2512	2648

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013860	Polymorphism	p.ALA3474THR	N/A
Swiss-Prot	VAR_013859	Disease	p.ARG3004GLN	Ciliary dyskinesia, primary, 7 (CILD7)
Swiss-Prot	VAR_013856	Polymorphism	p.ASP1640GLY	N/A
Swiss-Prot	VAR_013852	Polymorphism	p.GLN639ARG	N/A
Swiss-Prot	VAR_013851	Polymorphism	p.GLU34LEU	N/A
Swiss-Prot	VAR_042944	Polymorphism	p.GLU34VAL	N/A
Swiss-Prot	VAR_013858	Polymorphism	p.ILE2682VAL	N/A
Swiss-Prot	VAR_013861	Polymorphism	p.LEU3715VAL	N/A
Swiss-Prot	VAR_042945	Polymorphism	p.MET1316VAL	N/A
Swiss-Prot	VAR_042946	Polymorphism	p.MET4172VAL	N/A
Swiss-Prot	VAR_013857	Polymorphism	p.SER2641ASN	N/A
Swiss-Prot	VAR_013853	Polymorphism	p.SER654CYS	N/A
Swiss-Prot	VAR_013862	Polymorphism	p.SER3765PRO	N/A
Swiss-Prot	VAR_013855	Polymorphism	p.THR1038ALA	N/A
Swiss-Prot	VAR_013863	Polymorphism	p.THR4177ILE	N/A
Swiss-Prot	VAR_060141	Polymorphism	p.TYR2593HIS	N/A
Swiss-Prot	VAR_013854	Polymorphism	p.VAL1023ALA	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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