Results for the protein: Q9UPR3

Results for the Protein: Q9UPR3

84029494

23381

SMG5

NCBI, UniProt

SMG5_HUMAN RecName: Full=Protein SMG5; AltName: Full=EST1-like protein B; AltName: Full=LPTS-RP1; AltName: Full=LPTS-interacting protein; AltName: Full=SMG-5 homolog; Short=hSMG-5

			0 14 0 13 1

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Default View: EST1 - pfam10374 PINc - smart00670	Swiss-Prot Protein: Q9UPR3 Identical to: NP_056142 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PINc	smart00670	1.2e-14	857	978

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs141888329	Polymorphism	p.ARG104GLN	N/A
dbSNP	rs113233184	Polymorphism	p.ARG237HIS	N/A
dbSNP	rs34377219	Polymorphism	p.ARG543TRP	N/A
Swiss-Prot	VAR_030828	Polymorphism	p.ASN1004ASP	N/A
dbSNP	rs151295845	Polymorphism	p.ASN553SER	N/A
dbSNP	rs137951764	Polymorphism	p.ASP524ASN	N/A
dbSNP	rs56280074	Polymorphism	p.CYS281TRP	N/A
dbSNP	rs142278952	Polymorphism	p.ILE151VAL	N/A
dbSNP	rs145100575	Polymorphism	p.ILE355VAL	N/A
dbSNP	rs149673289	Polymorphism	p.LYS41GLU	N/A
dbSNP	rs143152509	Polymorphism	p.SER495GLY	N/A
dbSNP	rs146876053	Polymorphism	p.VAL983ALA	N/A
dbSNP	rs147611925	Polymorphism	p.VAL191ILE	N/A
dbSNP	rs142253945	Polymorphism	p.VAL86ILE	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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