Results for the protein: O96018

Results for the Protein: O96018

6226953

9546

APBA3

NCBI, UniProt

APBA3_HUMAN RecName: Full=Amyloid beta A4 precursor protein-binding family A member 3; AltName: Full=Adapter protein X11gamma; AltName: Full=Neuron-specific X11L2 protein; AltName: Full=Neuronal Munc18-1-interacting protein 3; Short=Mint-3

			0 7 0 5 2

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Default View: PTB - smart00462 PDZ - smart00228	Swiss-Prot Protein: O96018 Identical to: NP_004877 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PDZ	smart00228	9.9e-16	391	481
PDZ	smart00228	3.8e-09	482	561

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs80099743	Polymorphism	p.ALA189THR	N/A
Swiss-Prot	VAR_047952	Polymorphism	p.CYS376ARG	N/A
dbSNP	rs8102086	Polymorphism	p.CYS376GLY	N/A
Swiss-Prot	VAR_011822	Polymorphism	p.ILE527PHE	N/A
dbSNP	rs3746119	Polymorphism	p.LYS276THR	N/A
dbSNP	rs35932323	Polymorphism	p.TRP154LEU	N/A
dbSNP	rs55941146	Polymorphism	p.VAL206GLY	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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