Results for the protein: Q5SZK8

Results for the Protein: Q5SZK8

73620903

341640

FREM2

NCBI, UniProt

FREM2_HUMAN RecName: Full=FRAS1-related extracellular matrix protein 2; AltName: Full=ECM3 homolog; Flags: Precursor

Known Diseases associated with this Protein:
FRASER SYNDROME
FRASER SYNDROME (FRASS)

3

17

2

14

4

Tips:

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Default View: Calx_beta - smart00237 Calx-beta - pfam03160	Swiss-Prot Protein: Q5SZK8 Identical to: NP_997244 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Calx-beta	pfam03160	3.8e-10	1881	1982
Calx-beta	pfam03160	8.4e-10	2007	2103
Calx-beta	pfam03160	0.00013	2127	2220
Calx-beta	pfam03160	1.1e-14	2248	2342
Calx_beta	smart00237	2.6e-08	1768	1858
Calx_beta	smart00237	3.8e-09	1881	1982
Calx_beta	smart00237	8.1e-08	2007	2103
Calx_beta	smart00237	0.00022	2127	2220
Calx_beta	smart00237	2.1e-11	2248	2342

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs7996253	Polymorphism	p.ALA2962VAL	N/A
Swiss-Prot	VAR_023202	Polymorphism	p.ARG2066CYS	N/A
dbSNP	rs9548505	Polymorphism	p.ARG2066GLY	N/A
dbSNP	rs1868463	Polymorphism	p.ARG1668HIS	N/A
dbSNP	rs77886481	Polymorphism	p.ARG1639LYS	N/A
dbSNP	rs58363253	Polymorphism	p.ARG722LYS	N/A
dbSNP	rs9603422	Polymorphism	p.ARG1840TRP	N/A
dbSNP	rs61997174	Polymorphism	p.GLN396HIS	N/A
Swiss-Prot	VAR_023201	Disease	p.GLU1972LYS	Fraser syndrome (FRASS)
Swiss-Prot	VAR_037569	Polymorphism	p.ILE1045SER	N/A
dbSNP	rs7329939	Polymorphism	p.LEU868VAL	N/A
dbSNP	rs2496424	Polymorphism	p.MET1039LYS	N/A
dbSNP	rs2496425	Polymorphism	p.PHE1070SER	N/A
Swiss-Prot	VAR_061175	Polymorphism	p.SER745PRO	N/A
dbSNP	rs9548509	Polymorphism	p.THR2326ILE	N/A
dbSNP	rs74781600	Polymorphism	p.THR1634MET	N/A
dbSNP	rs9548506	Polymorphism	p.THR2153SER	N/A
dbSNP	rs7327915	Polymorphism	p.VAL770MET	N/A
OMIM	608945.0003	Disease	p.GLU1972LYS	FRASER SYNDROME
OMIM	608945.0001	Disease	p.GLU1974LYS	FRASER SYNDROME

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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