Results for the protein: Q12805

Results for the Protein: Q12805

9973182

2202

EFEMP1

NCBI, UniProt

FBLN3_HUMAN RecName: Full=EGF-containing fibulin-like extracellular matrix protein 1; AltName: Full=Extracellular protein S1-5; AltName: Full=Fibrillin-like protein; AltName: Full=Fibulin-3; Short=FIBL-3; Flags: Precursor

Known Diseases associated with this Protein:
  DOYNE HONEYCOMB RETINAL DYSTROPHY (DHRD)
  DOYNE HONEYCOMB RETINAL DYSTROPHY, INCLUDED
  MALATTIA LEVENTINESE

2

1

1

0

2

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Default View: EGF_CA - cd00054 EGF_CA - pfam07645 EGF_CA - smart00179 EGF - cd00053 EGF - smart00181 EGF - pfam00008	Swiss-Prot Protein: Q12805 Identical to: NP_001034438, NP_001034437 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	4.2e-09	176	213
EGF_CA	cd00054	2.8e-14	214	253
EGF	cd00053	1e-09	217	253
EGF_CA	cd00054	9.8e-13	254	293
EGF	cd00053	7.8e-09	257	293
EGF_CA	cd00054	2.6e-10	294	333
EGF	cd00053	1.3e-06	297	333
EGF_CA	cd00054	3.4e-07	334	378
EGF	pfam00008	3.2e-05	177	211
EGF_CA	pfam07645	2.3e-16	173	212
EGF_CA	smart00179	6.2e-15	173	213
EGF	smart00181	3.7e-08	176	213
EGF_CA	pfam07645	2.9e-09	214	252
EGF_CA	smart00179	1.6e-15	214	253
EGF	smart00181	4.3e-10	217	253
EGF_CA	pfam07645	2.7e-07	254	292
EGF_CA	smart00179	1.2e-13	254	293
EGF	smart00181	4.4e-09	257	293
EGF_CA	pfam07645	2.1e-05	294	332
EGF_CA	smart00179	1.2e-11	294	333
EGF	smart00181	1.2e-06	297	333
EGF_CA	pfam07645	0.00054	334	377
EGF_CA	smart00179	2e-07	334	378

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_009513	Disease	p.ARG345TRP	Doyne honeycomb retinal dystrophy (DHRD)
Swiss-Prot	VAR_009512	Polymorphism	p.ILE220PHE	N/A
OMIM	601548.0001	Disease	p.ARG345TRP	MALATTIA LEVENTINESE\|\|DOYNE HONEYCOMB RETINAL DYSTROPHY, INCLUDED

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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