Results for the protein: Q8NFY9

Results for the Protein: Q8NFY9

126215728

84541

KBTBD8

NCBI, UniProt

KBTB8_HUMAN RecName: Full=Kelch repeat and BTB domain-containing protein 8; AltName: Full=T-cell activation kelch repeat protein; Short=TA-KRP

			0 4 0 2 2

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Default View: BTB - smart00225 BACK - smart00875 BACK - pfam07707 Kelch - smart00612 Kelch_2 - pfam07646	Swiss-Prot Protein: Q8NFY9 Identical to: NP_115894 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BACK	pfam07707	1.7e-41	152	253
BACK	smart00875	1.6e-30	152	253
Kelch	smart00612	0.00057	336	390
Kelch_2	pfam07646	4.4e-07	379	428
Kelch	smart00612	6.2e-07	391	441

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036083	Polymorphism	p.ARG405LYS	N/A
dbSNP	rs13096789	Polymorphism	p.CYS420ARG	N/A
dbSNP	rs75804175	Polymorphism	p.PHE179LEU	N/A
Swiss-Prot	VAR_036082	Polymorphism	p.SER198CYS	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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