Results for the protein: Q9H8L6

Results for the Protein: Q9H8L6

296437373

79812

MMRN2

NCBI, UniProt

MMRN2_HUMAN RecName: Full=Multimerin-2; AltName: Full=EMILIN-3; AltName: Full=Elastin microfibril interface located protein 3; Short=Elastin microfibril interfacer 3; AltName: Full=EndoGlyx-1 p125/p140 subunit; Flags: Precursor

			0 6 0 5 1

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: EMI - pfam07546 C1Q - smart00110 C1q - pfam00386	Swiss-Prot Protein: Q9H8L6 Identical to: NP_079032 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EMI	pfam07546	2.8e-28	54	129
C1Q	smart00110	1e-06	819	949

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61736566	Polymorphism	p.GLY182ALA	N/A
dbSNP	rs3750823	Polymorphism	p.GLY49SER	N/A
dbSNP	rs4934281	Polymorphism	p.HIS731ASP	N/A
dbSNP	rs36073867	Polymorphism	p.SER831ARG	N/A
dbSNP	rs34587013	Polymorphism	p.VAL910LEU	N/A
Swiss-Prot	VAR_036362	Polymorphism	p.VAL448MET	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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258