Results for the protein: P49790

Results for the Protein: P49790

206729891

9972

NUP153

NCBI, UniProt

NU153_HUMAN RecName: Full=Nuclear pore complex protein Nup153; AltName: Full=153 kDa nucleoporin; AltName: Full=Nucleoporin Nup153

			0 7 0 6 1

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Default View: Nup153 - pfam08604 zf-RanBP - pfam00641 ZnF_RBZ - smart00547 Nup_retrotrp_bd - pfam10599	Swiss-Prot Protein: P49790 Identical to: NP_005115 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-RanBP	pfam00641	2.8e-13	722	751
zf-RanBP	pfam00641	8.1e-11	793	822
zf-RanBP	pfam00641	1.2e-12	851	880
Nup153	pfam08604		113	634
ZnF_RBZ	smart00547	2.6e-07	660	684
ZnF_RBZ	smart00547	1.1e-09	724	748
ZnF_RBZ	smart00547	2.6e-07	853	877
Nup_retrotrp_bd	pfam10599	2.8e-26	1385	1475

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2274136	Polymorphism	p.ALA827THR	N/A
dbSNP	rs6906499	Polymorphism	p.ASN402LYS	N/A
dbSNP	rs16879902	Polymorphism	p.ASP90ASN	N/A
dbSNP	rs2228375	Polymorphism	p.ILE248VAL	N/A
Swiss-Prot	VAR_046557	Polymorphism	p.PRO821LEU	N/A
dbSNP	rs61744976	Polymorphism	p.SER836CYS	N/A
dbSNP	rs2228379	Polymorphism	p.THR1388ALA	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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