Results for the protein: Q96GX5

Results for the Protein: Q96GX5

68565604

84930

MASTL

NCBI, UniProt

GWL_HUMAN RecName: Full=Serine/threonine-protein kinase greatwall; Short=GW; Short=GWL; Short=hGWL; AltName: Full=Microtubule-associated serine/threonine-protein kinase-like; Short=MAST-L

Known Diseases associated with this Protein:
THROMBOCYTOPENIA 2
THROMBOCYTOPENIA 2 (THC2)

2

4

1

2

3

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Default View: TyrKc - smart00219 STYKc - smart00221 Pkinase_Tyr - pfam07714 S_TKc - smart00220	Swiss-Prot Protein: Q96GX5 Identical to: NP_001165774 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
STYKc	smart00221	1.9e-43	35	273
TyrKc	smart00219	1.3e-11	35	249
S_TKc	smart00220	5.8e-39	45	310

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_057103	Polymorphism	p.ASP606TYR	N/A
Swiss-Prot	VAR_022838	Disease	p.GLU167ASP	Thrombocytopenia 2 (THC2)
dbSNP	rs3802526	Polymorphism	p.PRO620ALA	N/A
dbSNP	rs36121140	Polymorphism	p.THR337LYS	N/A
Swiss-Prot	VAR_040793	Polymorphism	p.VAL610ILE	N/A
OMIM	608221.0001	Disease	p.GLU167ASP	THROMBOCYTOPENIA 2

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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