Results for the protein: Q8TD31

Results for the Protein: Q8TD31

42558938

54535

CCHCR1

NCBI, UniProt

CCHCR_HUMAN RecName: Full=Coiled-coil alpha-helical rod protein 1; AltName: Full=Alpha-helical coiled-coil rod protein; AltName: Full=Putative gene 8 protein; Short=Pg8

			0 19 0 18 1

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Default View: HCR - pfam07111	Swiss-Prot Protein: Q8TD31 Identical to: NP_061925 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2027937	Polymorphism	p.ALA367THR	N/A
Swiss-Prot	VAR_017784	Polymorphism	p.ALA733VAL	N/A
dbSNP	rs73397100	Polymorphism	p.ARG656CYS	N/A
dbSNP	rs130075	Polymorphism	p.ARG102GLN	N/A
dbSNP	rs130069	Polymorphism	p.ARG417GLN	N/A
dbSNP	rs130072	Polymorphism	p.ARG627GLN	N/A
dbSNP	rs130065	Polymorphism	p.ARG103TRP	N/A
dbSNP	rs130076	Polymorphism	p.ARG109TRP	N/A
dbSNP	rs11961407	Polymorphism	p.ARG134TRP	N/A
dbSNP	rs130068	Polymorphism	p.ARG417TRP	N/A
dbSNP	rs130074	Polymorphism	p.GLN639HIS	N/A
dbSNP	rs130067	Polymorphism	p.GLU275ASP	N/A
dbSNP	rs130079	Polymorphism	p.GLY575CYS	N/A
dbSNP	rs11540822	Polymorphism	p.LEU179GLN	N/A
dbSNP	rs3132539	Polymorphism	p.LEU508VAL	N/A
dbSNP	rs2073720	Polymorphism	p.LYS546ARG	N/A
dbSNP	rs116969494	Polymorphism	p.LYS648MET	N/A
dbSNP	rs130066	Polymorphism	p.SER164ARG	N/A
dbSNP	rs1576	Polymorphism	p.SER776CYS	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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