Results for the protein: Q13201

Results for the Protein: Q13201

143811421

22915

MMRN1

NCBI, UniProt

MMRN1_HUMAN RecName: Full=Multimerin-1; AltName: Full=EMILIN-4; AltName: Full=Elastin microfibril interface located protein 4; Short=Elastin microfibril interfacer 4; AltName: Full=Endothelial cell multimerin; Contains: RecName: Full=Platelet glycoprotein Ia*; Contains: RecName: Full=155 kDa platelet multimerin; Short=p-155; Short=p155; Flags: Precursor

			0 6 0 4 2

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Default View: EMI - pfam07546 EGF_CA - cd00054 EGF - smart00181 EGF - cd00053 EGF - pfam00008 EGF_CA - smart00179 C1Q - smart00110 C1q - pfam00386	Swiss-Prot Protein: Q13201 Identical to: NP_031377 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	1.6e-10	1044	1077
EGF	pfam00008	1.2e-07	1045	1075
C1q	pfam00386	9.1e-44	1102	1225
EMI	pfam07546	3.4e-24	207	279
EGF	smart00181	1.1e-08	1044	1077
EGF_CA	smart00179	4.1e-05	1045	1077
C1Q	smart00110	2.5e-58	1094	1228

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12646270	Polymorphism	p.GLY883ASP	N/A
dbSNP	rs61730036	Polymorphism	p.PRO278LEU	N/A
dbSNP	rs1442138	Polymorphism	p.THR58ALA	N/A
Swiss-Prot	VAR_031472	Polymorphism	p.THR805ALA	N/A
Swiss-Prot	VAR_031474	Polymorphism	p.THR964ARG	N/A
dbSNP	rs75749135	Polymorphism	p.THR578SER	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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