Results for the protein: Q6UXI9

Results for the Protein: Q6UXI9

311033424

255743

NPNT

NCBI, UniProt

NPNT_HUMAN RecName: Full=Nephronectin; AltName: Full=Preosteoblast EGF-like repeat protein with MAM domain; AltName: Full=Protein EGFL6-like; Flags: Precursor

			0 4 0 3 1

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Default View: EGF_CA - smart00179 EGF_CA - cd00054 EGF_CA - pfam07645 EGF - smart00181 EGF - cd00053 MAM - smart00137 MAM - cd06263 MAM - pfam00629	Swiss-Prot Protein: Q6UXI9 Identical to: NP_001028219 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	1.9e-08	92	128
EGF_CA	cd00054	2.5e-06	169	213
EGF	cd00053	0.00024	172	213
EGF_CA	cd00054	8.6e-14	214	254
EGF	cd00053	1.9e-09	217	254
MAM	cd06263	6.2e-44	422	561
MAM	pfam00629	6.6e-44	422	563
EGF_CA	pfam07645	1e-06	89	127
EGF_CA	smart00179	4.2e-11	89	128
EGF	smart00181	1.3e-08	92	128
EGF_CA	pfam07645	1.1e-07	169	212
EGF_CA	smart00179	3.7e-06	169	213
EGF_CA	pfam07645	4.4e-11	214	253
EGF_CA	smart00179	1.6e-13	214	254
EGF	smart00181	3e-09	217	254
MAM	smart00137	1.5e-13	417	561

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35132891	Polymorphism	p.GLN159HIS	N/A
dbSNP	rs35613262	Polymorphism	p.GLY473SER	N/A
dbSNP	rs4340795	Polymorphism	p.ILE234VAL	N/A
Swiss-Prot	VAR_033317	Polymorphism	p.MET476THR	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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