Results for the protein: Q8TD57

Results for the Protein: Q8TD57

74762616

55567

DNAH3

NCBI, UniProt

DYH3_HUMAN RecName: Full=Dynein heavy chain 3, axonemal; AltName: Full=Axonemal beta dynein heavy chain 3; Short=HsADHC3; AltName: Full=Ciliary dynein heavy chain 3; AltName: Full=Dnahc3-b

			0 19 0 15 4

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Default View: DHC_N2 - pfam08393 AAA_5 - pfam07728 Dynein_heavy - pfam03028	Swiss-Prot Protein: Q8TD57 Identical to: NP_060009 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHC_N2	pfam08393	4.2e-199	857	1270
AAA_5	pfam07728	0.00026	1705	1848
AAA_5	pfam07728	4.5e-05	2069	2207

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs58508496	Polymorphism	p.ALA41THR	N/A
dbSNP	rs12924551	Polymorphism	p.ARG3645CYS	N/A
dbSNP	rs2301620	Polymorphism	p.ARG3744TRP	N/A
dbSNP	rs16970910	Polymorphism	p.ARG545TRP	N/A
dbSNP	rs72780891	Polymorphism	p.GLN214LYS	N/A
Swiss-Prot	VAR_039421	Polymorphism	p.GLU3457LYS	N/A
dbSNP	rs61735055	Polymorphism	p.HIS3234ARG	N/A
dbSNP	rs34179606	Polymorphism	p.ILE2399ASN	N/A
Swiss-Prot	VAR_039412	Polymorphism	p.ILE484LEU	N/A
dbSNP	rs330150	Polymorphism	p.ILE1565MET	N/A
dbSNP	rs76979211	Polymorphism	p.ILE2782MET	N/A
dbSNP	rs12929546	Polymorphism	p.ILE2804VAL	N/A
dbSNP	rs34771199	Polymorphism	p.LEU3639ILE	N/A
dbSNP	rs33928718	Polymorphism	p.LYS2949THR	N/A
Swiss-Prot	VAR_039416	Polymorphism	p.SER1608PHE	N/A
Swiss-Prot	VAR_039417	Polymorphism	p.THR1752MET	N/A
dbSNP	rs34051490	Polymorphism	p.TYR3615CYS	N/A
dbSNP	rs16970832	Polymorphism	p.VAL1583ILE	N/A
dbSNP	rs79106276	Polymorphism	p.VAL595ILE	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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