Results for the protein: O95759

Results for the Protein: O95759

262527569

11138

TBC1D8

NCBI, UniProt

TBCD8_HUMAN RecName: Full=TBC1 domain family member 8; AltName: Full=AD 3; AltName: Full=Vascular Rab-GAP/TBC-containing protein

			0 6 0 5 1

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Default View: GRAM - smart00568 GRAM - pfam02893 COG5210 - COG5210 TBC - smart00164 RabGAP-TBC - pfam00566	Swiss-Prot Protein: O95759 Identical to: NP_001095896 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG5210	COG5210	1.4e-43	288	796
GRAM	pfam02893	6.1e-17	293	353
RabGAP-TBC	pfam00566	2.1e-57	508	712
GRAM	smart00568	7.7e-19	152	212
GRAM	smart00568	9.3e-17	292	353
TBC	smart00164	4.6e-47	502	694

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs114414274	Polymorphism	p.ALA156VAL	N/A
dbSNP	rs746924	Polymorphism	p.ARG1079GLY	N/A
dbSNP	rs1062062	Polymorphism	p.GLY954ARG	N/A
dbSNP	rs3739011	Polymorphism	p.MET1108VAL	N/A
Swiss-Prot	VAR_060542	Polymorphism	p.PHE1073LEU	N/A
dbSNP	rs2289953	Polymorphism	p.THR317ALA	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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