Results for the protein: Q8IY47

Results for the Protein: Q8IY47

33301029

25948

KBTBD2

NCBI, UniProt

KBTB2_HUMAN RecName: Full=Kelch repeat and BTB domain-containing protein 2; AltName: Full=BTB and kelch domain-containing protein 1

			0 7 0 1 6

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Default View: BTB - pfam00651 BTB - smart00225 BACK - smart00875 BACK - pfam07707 Kelch_1 - pfam01344 Kelch - smart00612	Swiss-Prot Protein: Q8IY47 Identical to: NP_056298 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Kelch_1	pfam01344	3.2e-09	369	416
BTB	smart00225	5.8e-30	32	121
BACK	pfam07707	1e-34	133	231
BACK	smart00875	6e-30	133	233
Kelch	smart00612	1.5e-06	381	429

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_037766	Polymorphism	p.GLN166LYS	N/A
Swiss-Prot	VAR_037767	Polymorphism	p.GLU189GLY	N/A
Swiss-Prot	VAR_037771	Polymorphism	p.LEU534ILE	N/A
Swiss-Prot	VAR_037769	Polymorphism	p.PRO254ARG	N/A
Swiss-Prot	VAR_037770	Polymorphism	p.PRO301ARG	N/A
Swiss-Prot	VAR_037772	Polymorphism	p.SER594TYR	N/A
dbSNP	rs35477666	Polymorphism	p.THR193PRO	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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