Results for the protein: NP

Results for the Protein: NP_000079

110349772

1277

COL1A1

NCBI

collagen alpha-1(I) chain preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  CAFFEY DISEASE
  EHLERS-DANLOS SYNDROME, TYPE I
  OI/EDS COMBINED SYNDROME
  OSTEOGENESIS IMPERFECTA
  OSTEOGENESIS IMPERFECTA, TYPE I
  OSTEOGENESIS IMPERFECTA, TYPE I, MILD
  OSTEOGENESIS IMPERFECTA, TYPE II
  OSTEOGENESIS IMPERFECTA, TYPE II, THIN-BONE TYPE
  OSTEOGENESIS IMPERFECTA, TYPE IIA
  OSTEOGENESIS IMPERFECTA, TYPE IIC
  OSTEOGENESIS IMPERFECTA, TYPE III
  OSTEOGENESIS IMPERFECTA, TYPE III/IV
  OSTEOGENESIS IMPERFECTA, TYPE IV
  OSTEOPENIC NONFRACTURE SYNDROME
  PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED

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Tips:

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Default View: VWC - smart00214 VWC - pfam00093 Collagen - pfam01391 COLFI - smart00038 COLFI - pfam01410	RefSeq Protein: NP_000079 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	1.3e-09	108	165
Collagen	pfam01391	1.1e-12	177	235
Collagen	pfam01391	5e-20	236	295
Collagen	pfam01391	9.2e-17	296	355
Collagen	pfam01391	9e-16	356	415
Collagen	pfam01391	1.3e-15	416	475
Collagen	pfam01391	1.9e-16	476	535
Collagen	pfam01391	1.2e-16	536	595
Collagen	pfam01391	6.5e-16	596	655
Collagen	pfam01391	1.9e-15	656	715
Collagen	pfam01391	2.4e-18	716	775
Collagen	pfam01391	8.4e-18	779	838
Collagen	pfam01391	2.1e-15	839	898
Collagen	pfam01391	5.6e-15	899	958
Collagen	pfam01391	2.7e-16	959	1018
Collagen	pfam01391	2.7e-15	1019	1078
Collagen	pfam01391	9e-20	1079	1138
Collagen	pfam01391	3.8e-11	1139	1197
COLFI	pfam01410	1e-162	1245	1463
VWC	smart00214	2.7e-20	40	95
COLFI	smart00038	2.5e-171	1228	1464

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1800215	Polymorphism	p.THR1075ALA	N/A
OMIM	120150.0070	Disease	p.ALA1387VAL	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0059	Disease	p.ARG134CYS	EHLERS-DANLOS SYNDROME, TYPE I
OMIM	120150.0063	Disease	p.ARG836CYS	CAFFEY DISEASE\|\|PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED
OMIM	120150.0055	Disease	p.ARG963TER	OSTEOGENESIS IMPERFECTA, TYPE I
OMIM	120150.0052	Disease	p.GLY13ALA	OSTEOGENESIS IMPERFECTA, TYPE I, MILD
OMIM	120150.0030	Disease	p.GLY154ARG	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120150.0004	Disease	p.GLY391ARG	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0008	Disease	p.GLY667ARG	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0014	Disease	p.GLY847ARG	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0034	Disease	p.GLY85ARG	OSTEOGENESIS IMPERFECTA
OMIM	120150.0064	Disease	p.GLY13ASP	OI/EDS COMBINED SYNDROME
OMIM	120150.0047	Disease	p.GLY355ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0029	Disease	p.GLY541ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0006	Disease	p.GLY559ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0007	Disease	p.GLY673ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0015	Disease	p.GLY883ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0001	Disease	p.GLY97ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0021 120150.0022	Disease	p.GLY1017CYS	OSTEOGENESIS IMPERFECTA
OMIM	120150.0003	Disease	p.GLY175CYS	OSTEOGENESIS IMPERFECTA, TYPE IV
OMIM	120150.0028	Disease	p.GLY178CYS	OSTEOGENESIS IMPERFECTA, TYPE I
OMIM	120150.0033	Disease	p.GLY415CYS	OSTEOGENESIS IMPERFECTA, TYPE III/IV
OMIM	120150.0038	Disease	p.GLY43CYS	OSTEOPENIC NONFRACTURE SYNDROME
OMIM	120150.0005	Disease	p.GLY526CYS	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120150.0009	Disease	p.GLY691CYS	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0010	Disease	p.GLY718CYS	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0011	Disease	p.GLY748CYS	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0016	Disease	p.GLY904CYS	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0002	Disease	p.GLY94CYS	OSTEOGENESIS IMPERFECTA, TYPE I
OMIM	120150.0018	Disease	p.GLY988CYS	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0065	Disease	p.GLY76GLU	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120150.0031	Disease	p.GLY1003SER	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0019	Disease	p.GLY1009SER	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0042	Disease	p.GLY352SER	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120150.0044	Disease	p.GLY415SER	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0049	Disease	p.GLY661SER	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120150.0012	Disease	p.GLY832SER	OSTEOGENESIS IMPERFECTA, TYPE IV
OMIM	120150.0013	Disease	p.GLY844SER	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120150.0048	Disease	p.GLY862SER	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120150.0040	Disease	p.GLY901SER	OSTEOGENESIS IMPERFECTA, TYPE I
OMIM	120150.0017	Disease	p.GLY913SER	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0035	Disease	p.GLY1006VAL	OSTEOGENESIS IMPERFECTA, TYPE IIC
OMIM	120150.0037	Disease	p.GLY256VAL	OSTEOGENESIS IMPERFECTA, TYPE IIA
OMIM	120150.0045	Disease	p.GLY565VAL	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0056	Disease	p.GLY586VAL	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0032	Disease	p.GLY637VAL	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0041	Disease	p.GLY802VAL	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120150.0036	Disease	p.GLY973VAL	OSTEOGENESIS IMPERFECTA, TYPE IIA
OMIM	120150.0053	Disease	p.TRP94CYS	OSTEOGENESIS IMPERFECTA, TYPE II, THIN-BONE TYPE

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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