Results for the protein: Q8WVB6

Results for the Protein: Q8WVB6

74751544

63922

CHTF18

NCBI, UniProt

CTF18_HUMAN RecName: Full=Chromosome transmission fidelity protein 18 homolog; Short=hCTF18; AltName: Full=CHL12

			0 11 0 9 2

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Default View: HolB - COG0470 AAA - cd00009 AAA - smart00382 AAA_5 - pfam07728 AAA - pfam00004	Swiss-Prot Protein: Q8WVB6 Identical to: NP_071375 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AAA	cd00009	3.2e-18	345	526
AAA	pfam00004	6e-09	370	512
AAA	smart00382	1.8e-08	366	524
AAA_5	pfam07728	0.00011	369	502

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_043993	Polymorphism	p.ALA466SER	N/A
dbSNP	rs118113142	Polymorphism	p.ALA745THR	N/A
dbSNP	rs59706474	Polymorphism	p.ALA276VAL	N/A
dbSNP	rs61745756	Polymorphism	p.ARG164HIS	N/A
dbSNP	rs61741082	Polymorphism	p.CYS763SER	N/A
Swiss-Prot	VAR_043991	Polymorphism	p.GLN82PRO	N/A
dbSNP	rs77682584	Polymorphism	p.GLU116LYS	N/A
dbSNP	rs114140868	Polymorphism	p.GLU233LYS	N/A
dbSNP	rs3765263	Polymorphism	p.LYS244ARG	N/A
dbSNP	rs2294451	Polymorphism	p.PRO928LEU	N/A
dbSNP	rs2277902	Polymorphism	p.SER63PHE	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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