Results for the protein: P13497

Results for the Protein: P13497

13124688

649

BMP1

NCBI, UniProt

BMP1_HUMAN RecName: Full=Bone morphogenetic protein 1; Short=BMP-1; AltName: Full=Mammalian tolloid protein; Short=mTld; AltName: Full=Procollagen C-proteinase; Short=PCP; Flags: Precursor

Known Diseases associated with this Protein:
OSTEOGENESIS IMPERFECTA 13 (OI13)
OSTEOGENESIS IMPERFECTA, TYPE XIII

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Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

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

Default View: ZnMc_meprin - cd04282 ZnMc_BMP1_TLD - cd04281 ZnMc - smart00235 Astacin - pfam01400 ZnMc_MMP_like_3 - cd04327 ZnMc_MMP_like - cd04268 ZnMc_hatching_enzyme - cd04283 ZnMc_astacin_like - cd04280 ZnMc - cd00203 CUB - pfam00431 CUB - cd00041 CUB - smart00042 EGF_CA - smart00179 EGF_CA - cd00054 EGF_CA - pfam07645 EGF - cd00053 EGF - smart00181	Swiss-Prot Protein: P13497 Identical to: NP_006120 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnMc_BMP1_TLD	cd04281	1.6e-172	121	320
ZnMc_MMP_like_3	cd04327	8e-07	128	318
ZnMc_MMP_like	cd04268	6.4e-24	132	317
ZnMc_astacin_like	cd04280	7.4e-89	132	317
ZnMc_hatching_enzyme	cd04283	5.2e-46	132	319
ZnMc	cd00203	1.2e-38	133	317
CUB	cd00041	2.3e-45	322	433
CUB	cd00041	4.1e-49	435	546
EGF_CA	cd00054	1.3e-14	547	588
EGF	cd00053	6.5e-12	550	588
CUB	cd00041	7.3e-50	591	702
EGF_CA	cd00054	1.5e-10	703	743
EGF	cd00053	9.9e-09	706	743
CUB	cd00041	2.6e-48	747	858
CUB	cd00041	7.9e-42	860	975
Astacin	pfam01400	6e-121	128	321
CUB	pfam00431	6.7e-58	322	431
CUB	pfam00431	4.5e-66	435	544
CUB	pfam00431	1.6e-61	591	700
CUB	pfam00431	1.9e-59	747	856
CUB	pfam00431	5.1e-52	860	973
ZnMc	smart00235	4.4e-52	126	268
CUB	smart00042	6.3e-40	331	431
CUB	smart00042	8.9e-47	444	544
EGF_CA	smart00179	1.3e-15	547	588
EGF_CA	pfam07645	6.2e-06	548	587
EGF	smart00181	9.5e-13	550	588
CUB	smart00042	7.5e-47	600	700
EGF_CA	smart00179	2.1e-12	703	743
EGF	smart00181	7.8e-09	706	743
CUB	smart00042	3.6e-47	756	856
CUB	smart00042	1.6e-35	872	973

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036141	Polymorphism	p.ASP45HIS	N/A
Swiss-Prot	VAR_069096	Disease	p.GLY12ARG	Osteogenesis imperfecta 13 (OI13)
Swiss-Prot	VAR_067224	Disease	p.PHE249LEU	Osteogenesis imperfecta 13 (OI13)
dbSNP	rs80019749	Polymorphism	p.VAL817ALA	N/A
dbSNP	rs11996036	Polymorphism	p.VAL719ILE	N/A
OMIM	112264.0002	Disease	p.GLY12ARG	OSTEOGENESIS IMPERFECTA, TYPE XIII
OMIM	112264.0001	Disease	p.PHE249LEU	OSTEOGENESIS IMPERFECTA, TYPE XIII

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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