Results for the protein: Q9BY79

Results for the Protein: Q9BY79

74717666

83552

MFRP

NCBI, UniProt

MFRP_HUMAN RecName: Full=Membrane frizzled-related protein; AltName: Full=Membrane-type frizzled-related protein

Known Diseases associated with this Protein:
NANOPHTHALMOS 2
NANOPHTHALMOS 2 (NNO2)

3

6

2

3

4

Tips:

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Swiss-Prot Protein: Q9BY79

Identical to: NP_113621

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LDLa	cd00112	1.2e-10	260	294
CUB	cd00041	3.4e-45	301	413
CRD_sizzled	cd07452	8.4e-05	458	579
CRD_SFRP2	cd07446	1.1e-06	462	578
CRD_Collagen_XVIII	cd07455	0.00022	462	579
CRD_FZ9	cd07463	7.5e-08	462	579
CRD_SFRP3	cd07441	0.00037	463	579
CRD_Carboxypeptidase	cd07447	1e-05	463	579
CRD_FZ4	cd07448	9.7e-09	463	575
CRD_FZ5	cd07460	2.3e-07	463	578
CRD_FZ10	cd07462	1.1e-05	463	578
CRD_FZ8	cd07461	2.9e-07	463	577
CRD_FZ3	cd07449	4.6e-12	464	579
CRD_FZ1_like	cd07458	5.1e-09	464	579
CRD_FZ	cd07066	2.6e-27	465	575
CRD_SFRP4	cd07442	1.7e-05	465	579
CRD_FZ5_like	cd07456	2.3e-09	465	579
CRD_FZ9_like	cd07457	3e-10	465	577
CRD_FZ6	cd07450	2.6e-07	465	579
CRD_corin_2	cd07888	6.1e-13	465	579
CRD_LIN_17	cd07454	2.3e-06	466	578
CRD_FZ2	cd07464	8.4e-05	466	579
CRD_FZ1	cd07465	4e-06	466	579
CRD_FZ7	cd07466	7.1e-07	466	579
CUB	pfam00431	3.7e-25	144	250
Ldl_recept_a	pfam00057	1.4e-05	258	294
CUB	pfam00431	1.2e-37	301	411
Fz	pfam01392	6.9e-18	466	577
CUB	smart00042	4.4e-29	153	250
LDLa	smart00192	1.5e-07	259	291
CUB	smart00042	7.9e-37	310	411
FRI	smart00063	9.3e-22	466	579

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025691	Polymorphism	p.ARG54GLY	N/A
dbSNP	rs61736238	Polymorphism	p.ARG257HIS	N/A
Swiss-Prot	VAR_025696	Polymorphism	p.GLN514HIS	N/A
Swiss-Prot	VAR_025695	Polymorphism	p.GLY449SER	N/A
Swiss-Prot	VAR_025694	Disease	p.ILE182THR	Nanophthalmos 2 (NNO2)
dbSNP	rs4639950	Polymorphism	p.ILE119VAL	N/A
dbSNP	rs3814762	Polymorphism	p.VAL136MET	N/A
OMIM	606227.0002	Disease	p.GLN175TER	NANOPHTHALMOS 2
OMIM	606227.0004	Disease	p.ILE182THR	NANOPHTHALMOS 2

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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