Results for the protein: Q6ZR08

Results for the Protein: Q6ZR08

226693521

201625

DNAH12

NCBI, UniProt

DYH12_HUMAN RecName: Full=Dynein heavy chain 12, axonemal; AltName: Full=Axonemal beta dynein heavy chain 12; AltName: Full=Axonemal dynein heavy chain 12-like protein; AltName: Full=Axonemal dynein heavy chain 7-like protein; AltName: Full=Ciliary dynein heavy chain 12; AltName: Full=Dynein heavy chain 7-like, axonemal; AltName: Full=Dynein heavy chain domain-containing protein 2

			0 17 0 15 2

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Default View: DHC_N2 - pfam08393 AAA_5 - pfam07728 Dynein_heavy - pfam03028	Swiss-Prot Protein: Q6ZR08 Identical to: NP_848599 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DHC_N2	pfam08393	1.6e-154	674	1092
AAA_5	pfam07728	7.1e-05	1529	1672
AAA_5	pfam07728	4e-06	1887	2026

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs201687411	Polymorphism	p.ALA1193SER	N/A
Swiss-Prot	VAR_060145	Polymorphism	p.ARG1748CYS	N/A
dbSNP	rs79604232	Polymorphism	p.ASN187ASP	N/A
dbSNP	rs62622492	Polymorphism	p.ASN1308SER	N/A
dbSNP	rs6773904	Polymorphism	p.ASP1549ASN	N/A
dbSNP	rs6445902	Polymorphism	p.ASP224GLU	N/A
dbSNP	rs4060726	Polymorphism	p.GLY2893SER	N/A
dbSNP	rs79825658	Polymorphism	p.LEU183ILE	N/A
dbSNP	rs17793014	Polymorphism	p.LYS1754ASN	N/A
dbSNP	rs6778837	Polymorphism	p.SER139ASN	N/A
dbSNP	rs79380221	Polymorphism	p.SER857LEU	N/A
dbSNP	rs7629743	Polymorphism	p.THR231ALA	N/A
dbSNP	rs4681982	Polymorphism	p.THR1763ILE	N/A
dbSNP	rs6806444	Polymorphism	p.THR467PRO	N/A
dbSNP	rs4462937	Polymorphism	p.TYR1704HIS	N/A
Swiss-Prot	VAR_037390	Polymorphism	p.TYR2740PHE	N/A
dbSNP	rs9311651	Polymorphism	p.VAL32ALA	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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