Results for the protein: Q8N2S1

Results for the Protein: Q8N2S1

160410003

8425

LTBP4

NCBI, UniProt

LTBP4_HUMAN RecName: Full=Latent-transforming growth factor beta-binding protein 4; Short=LTBP-4; Flags: Precursor

Known Diseases associated with this Protein:
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
URBAN-RIFKIN-DAVIS SYNDROME (URDS)

5

9

4

8

2

Tips:

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

Default View: EGF_2 - pfam07974 EGF_CA - smart00179 EGF_CA - pfam07645 EGF - smart00181	Swiss-Prot Protein: Q8N2S1 Identical to: NP_001036009 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF_CA	pfam07645	3.5e-10	357	396
EGF_CA	smart00179	5.4e-15	357	397
EGF	smart00181	4.2e-11	360	397
EGF	smart00181	8.9e-09	548	586
EGF_CA	smart00179	3.1e-05	549	586
EGF_CA	pfam07645	2.6e-09	587	627
EGF_CA	smart00179	3.7e-13	587	628
EGF	smart00181	1.5e-06	590	628
EGF_CA	pfam07645	8.1e-10	629	669
EGF_CA	smart00179	9.3e-16	629	670
EGF	smart00181	1.6e-08	632	670
EGF_CA	pfam07645	8.1e-09	671	707
EGF_CA	smart00179	3.5e-16	671	708
EGF	smart00181	6.1e-10	674	708
EGF_CA	pfam07645	2.5e-09	710	750
EGF_CA	smart00179	1.4e-14	710	751
EGF	smart00181	2e-08	713	751
EGF_CA	pfam07645	6e-11	752	792
EGF_CA	smart00179	4.3e-16	752	793
EGF	smart00181	9.3e-10	755	793
EGF_CA	pfam07645	1e-07	794	832
EGF_CA	smart00179	6e-10	794	833
EGF	smart00181	0.00024	797	833
EGF_CA	pfam07645	1.4e-11	834	876
EGF_CA	smart00179	1.3e-13	834	875
EGF	smart00181	1.4e-07	837	877
EGF_CA	pfam07645	4.1e-10	878	918
EGF_CA	smart00179	3e-14	878	919
EGF	smart00181	4.9e-09	881	919
EGF_CA	pfam07645	1.1e-10	920	959
EGF_CA	smart00179	6.8e-14	920	960
EGF	smart00181	7.3e-09	923	960
EGF_CA	pfam07645	6.5e-10	961	1003
EGF_CA	smart00179	6.5e-10	961	1004
EGF	smart00181	0.00044	964	1004
EGF_CA	pfam07645	3.5e-08	1005	1047
EGF_CA	smart00179	3.3e-12	1005	1048
EGF	smart00181	2.2e-05	1008	1048
EGF_CA	pfam07645	1.2e-10	1049	1089
EGF_CA	smart00179	3.1e-16	1049	1090
EGF	smart00181	1.3e-10	1052	1090
EGF_CA	pfam07645	3.1e-06	1091	1132
EGF_CA	smart00179	4.5e-07	1091	1133
EGF_CA	pfam07645	1.1e-05	1253	1294
EGF_CA	smart00179	3e-10	1253	1295
EGF	smart00181	8.9e-05	1256	1295
EGF_CA	smart00179	1.1e-10	1296	1337
EGF	smart00181	3.7e-08	1299	1337
EGF_CA	smart00179	0.00031	1533	1573
EGF	smart00181	1.8e-05	1536	1573
EGF_CA	pfam07645	1.1e-08	1574	1617
EGF_CA	smart00179	2.7e-12	1574	1618
EGF	smart00181	5.5e-06	1577	1618

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs10880	Polymorphism	p.ARG1141CYS	N/A
dbSNP	rs33937741	Polymorphism	p.ARG635GLY	N/A
Swiss-Prot	VAR_064153	Disease	p.CYS311GLY	Urban-Rifkin-Davis syndrome (URDS)
dbSNP	rs34299942	Polymorphism	p.PRO679ALA	N/A
dbSNP	rs34545902	Polymorphism	p.SER501THR	N/A
dbSNP	rs1131620	Polymorphism	p.THR787ALA	N/A
dbSNP	rs1051303	Polymorphism	p.THR820ALA	N/A
dbSNP	rs7367	Polymorphism	p.THR1296ILE	N/A
Swiss-Prot	VAR_037124	Polymorphism	p.THR1141MET	N/A
dbSNP	rs2303729	Polymorphism	p.VAL194ILE	N/A
OMIM	604710.0008	Disease	p.ARG1337TER	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
OMIM	604710.0006	Disease	p.ARG448TER	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
OMIM	604710.0004	Disease	p.CYS274GLY	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
OMIM	604710.0003	Disease	p.CYS857TER	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC

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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