Results for the protein: Q8WUY3

Results for the Protein: Q8WUY3

298286907

158471

PRUNE2

NCBI, UniProt

PRUN2_HUMAN RecName: Full=Protein prune homolog 2; AltName: Full=BNIP2 motif-containing molecule at the C-terminal region 1

			0 21 0 20 1

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Default View: BNIP2 - pfam12496 SEC14 - smart00516 SEC14 - cd00170	Swiss-Prot Protein: Q8WUY3 Identical to: NP_056040 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BNIP2	pfam12496	1.4e-74	2799	2919
SEC14	smart00516	2.3e-16	2898	3053

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs512110	Polymorphism	p.ALA2184THR	N/A
dbSNP	rs56261747	Polymorphism	p.ALA2573THR	N/A
dbSNP	rs41288767	Polymorphism	p.ARG2569GLY	N/A
dbSNP	rs557352	Polymorphism	p.ASN817ASP	N/A
dbSNP	rs41288771	Polymorphism	p.ASN1423LYS	N/A
dbSNP	rs4745571	Polymorphism	p.ASN2721SER	N/A
dbSNP	rs115994981	Polymorphism	p.ASP540ALA	N/A
dbSNP	rs680775	Polymorphism	p.CYS1506ARG	N/A
dbSNP	rs2077181	Polymorphism	p.GLN2115GLU	N/A
dbSNP	rs11145014	Polymorphism	p.GLU2512LYS	N/A
Swiss-Prot	VAR_069436	Polymorphism	p.GLU806LYS	N/A
dbSNP	rs683866	Polymorphism	p.HIS1708ASN	N/A
dbSNP	rs3739524	Polymorphism	p.LEU2365PHE	N/A
dbSNP	rs41289953	Polymorphism	p.LYS928GLU	N/A
dbSNP	rs11145017	Polymorphism	p.MET745ILE	N/A
dbSNP	rs561970	Polymorphism	p.SER2618GLY	N/A
dbSNP	rs3739523	Polymorphism	p.SER2439ILE	N/A
dbSNP	rs41310047	Polymorphism	p.SER1281PHE	N/A
dbSNP	rs620552	Polymorphism	p.SER2511PRO	N/A
dbSNP	rs517634	Polymorphism	p.THR1972ALA	N/A
dbSNP	rs530978	Polymorphism	p.THR1004MET	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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