Results for the protein: O95967

Results for the Protein: O95967

134047775

30008

EFEMP2

NCBI, UniProt

FBLN4_HUMAN RecName: Full=EGF-containing fibulin-like extracellular matrix protein 2; AltName: Full=Fibulin-4; Short=FIBL-4; AltName: Full=Protein UPH1; Flags: Precursor

Known Diseases associated with this Protein:
  CUTIS LAXA, AUTOSOMAL RECESSIVE, 1B (ARCL1B)
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

11

1

8

1

3

Tips:

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Default View: EGF_CA - smart00179 EGF_CA - pfam07645 EGF_CA - cd00054 EGF - cd00053 EGF - smart00181	Swiss-Prot Protein: O95967 Identical to: NP_058634 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	5.5e-09	126	163
EGF_CA	cd00054	3.4e-13	164	202
EGF	cd00053	4.9e-09	167	202
EGF_CA	cd00054	8.7e-11	203	242
EGF	cd00053	2.3e-06	206	242
EGF_CA	cd00054	7.7e-10	243	282
EGF	cd00053	3.7e-07	246	282
EGF_CA	cd00054	3.2e-09	283	328
EGF_CA	smart00179	0.00054	54	122
EGF_CA	pfam07645	2.6e-13	123	162
EGF_CA	smart00179	1.8e-14	123	163
EGF	smart00181	4.2e-08	126	163
EGF_CA	pfam07645	5.2e-08	164	201
EGF_CA	smart00179	6.6e-15	164	202
EGF	smart00181	1.3e-09	167	202
EGF_CA	pfam07645	1.3e-08	203	241
EGF_CA	smart00179	3.5e-12	203	242
EGF	smart00181	4.8e-07	206	242
EGF_CA	smart00179	1.9e-11	243	282
EGF	smart00181	5.9e-07	246	282
EGF_CA	pfam07645	9.1e-11	283	327
EGF_CA	smart00179	6.3e-10	283	328

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067070	Disease	p.ARG279CYS	Cutis laxa, autosomal recessive, 1B (ARCL1B)
Swiss-Prot	VAR_067069	Disease	p.CYS267TYR	Cutis laxa, autosomal recessive, 1B (ARCL1B)
Swiss-Prot	VAR_027019	Disease	p.GLU57LYS	Cutis laxa, autosomal recessive, 1B (ARCL1B)
dbSNP	rs601314	Polymorphism	p.ILE259VAL	N/A
OMIM	604633.0008	Disease	p.ALA397THR	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
OMIM	604633.0010	Disease	p.ARG227CYS	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B
OMIM	604633.0002	Disease	p.ARG279CYS	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
OMIM	604633.0009	Disease	p.ASP203ALA	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B
OMIM	604633.0004	Disease	p.CYS267TYR	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
OMIM	604633.0005	Disease	p.GLU126LYS	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
OMIM	604633.0001	Disease	p.GLU57LYS	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
OMIM	604633.0006	Disease	p.GLU126VAL	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

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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