Results for the protein: Q9P225

Results for the Protein: Q9P225

172044680

146754

DNAH2

NCBI, UniProt

DYH2_HUMAN RecName: Full=Dynein heavy chain 2, axonemal; AltName: Full=Axonemal beta dynein heavy chain 2; AltName: Full=Ciliary dynein heavy chain 2; AltName: Full=Dynein heavy chain domain-containing protein 3

			0 14 0 11 3

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Default View: DHC_N1 - pfam08385 DHC_N2 - pfam08393 AAA_5 - pfam07728 Dynein_heavy - pfam03028	Swiss-Prot Protein: Q9P225 Identical to: NP_065928 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHC_N1	pfam08385	8.9e-36	238	727
DHC_N2	pfam08393	1.8e-197	1218	1633
AAA_5	pfam07728	9.5e-05	2079	2222
AAA_5	pfam07728	3.5e-25	2411	2549

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_039407	Polymorphism	p.ALA100VAL	N/A
dbSNP	rs61745181	Polymorphism	p.ARG4255GLN	N/A
dbSNP	rs11656500	Polymorphism	p.ARG2548HIS	N/A
Swiss-Prot	VAR_060134	Polymorphism	p.ARG2904HIS	N/A
dbSNP	rs57926692	Polymorphism	p.ARG3651HIS	N/A
dbSNP	rs77431839	Polymorphism	p.ASP2210ASN	N/A
dbSNP	rs11868946	Polymorphism	p.GLU1326GLY	N/A
dbSNP	rs77695334	Polymorphism	p.LEU1203ILE	N/A
dbSNP	rs73232333	Polymorphism	p.MET961THR	N/A
dbSNP	rs57985356	Polymorphism	p.PHE4232LEU	N/A
dbSNP	rs73232344	Polymorphism	p.PRO1500LEU	N/A
Swiss-Prot	VAR_039408	Polymorphism	p.SER312THR	N/A
dbSNP	rs7213894	Polymorphism	p.THR3600ILE	N/A
dbSNP	rs78354379	Polymorphism	p.VAL4357ASP	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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