Results for the protein: Q17R60

Results for the Protein: Q17R60

115502232

3617

IMPG1

NCBI, UniProt

IMPG1_HUMAN RecName: Full=Interphotoreceptor matrix proteoglycan 1; AltName: Full=Interphotoreceptor matrix proteoglycan of 150 kDa; Short=IPM-150; AltName: Full=Sialoprotein associated with cones and rods; Flags: Precursor

			0 7 0 6 1

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Default View: SEA - pfam01390 SEA - smart00200	Swiss-Prot Protein: Q17R60 Identical to: NP_001554 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SEA	pfam01390	3.6e-26	570	675
SEA	smart00200	1.1e-10	563	689

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3734313	Polymorphism	p.ARG711HIS	N/A
dbSNP	rs10943299	Polymorphism	p.ARG704TRP	N/A
dbSNP	rs76604824	Polymorphism	p.ASP793ASN	N/A
Swiss-Prot	VAR_051069	Polymorphism	p.GLY463VAL	N/A
dbSNP	rs3734311	Polymorphism	p.HIS518ASP	N/A
dbSNP	rs3734312	Polymorphism	p.LYS569ARG	N/A
dbSNP	rs3778005	Polymorphism	p.SER761ASN	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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