Results for the protein: NP

Results for the Protein: NP_000081

4502951

1281

COL3A1

NCBI

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

Known Diseases associated with this Protein:
  EHLERS-DANLOS SYNDROME, TYPE III
  EHLERS-DANLOS SYNDROME, TYPE IV
  EHLERS-DANLOS SYNDROME, TYPE IV, VARIANT

21

3

21

3

0

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Default View: VWC - smart00214 VWC - pfam00093 Collagen - pfam01391 COLFI - smart00038 COLFI - pfam01410	RefSeq Protein: NP_000081 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	5.6e-07	98	149
Collagen	pfam01391	1.3e-16	168	227
Collagen	pfam01391	3.1e-20	234	293
Collagen	pfam01391	3.4e-17	294	353
Collagen	pfam01391	8.3e-17	354	413
Collagen	pfam01391	5.6e-17	414	473
Collagen	pfam01391	7.7e-16	474	533
Collagen	pfam01391	1.8e-17	534	593
Collagen	pfam01391	1.7e-12	594	653
Collagen	pfam01391	3.6e-12	654	713
Collagen	pfam01391	2.6e-14	714	773
Collagen	pfam01391	3.7e-14	777	836
Collagen	pfam01391	6.5e-13	837	896
Collagen	pfam01391	3.8e-16	897	956
Collagen	pfam01391	3.4e-16	957	1016
Collagen	pfam01391	5.7e-15	1017	1076
Collagen	pfam01391	1.6e-20	1077	1136
Collagen	pfam01391	1.4e-17	1137	1196
COLFI	pfam01410	9.1e-158	1248	1465
VWC	smart00214	1.7e-21	32	88
COLFI	smart00038	2.4e-171	1231	1466

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1800255	Polymorphism	p.ALA698THR	N/A
dbSNP	rs1516446	Polymorphism	p.HIS1353GLN	N/A
dbSNP	rs2271683	Polymorphism	p.ILE1205VAL	N/A
OMIM	120180.0018	Disease	p.GLY136ARG	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0031	Disease	p.GLY297ARG	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0029	Disease	p.GLY373ARG	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0002	Disease	p.GLY619ARG	EHLERS-DANLOS SYNDROME, TYPE IV, VARIANT
OMIM	120180.0015	Disease	p.GLY1018ASP	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0022	Disease	p.GLY499ASP	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0028	Disease	p.GLY82ASP	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0003	Disease	p.GLY883ASP	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0016	Disease	p.GLY1006GLU	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0017	Disease	p.GLY1021GLU	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0030	Disease	p.GLY385GLU	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0014	Disease	p.GLY847GLU	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0025	Disease	p.GLY934GLU	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0027	Disease	p.GLY16SER	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0024	Disease	p.GLY415SER	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0026	Disease	p.GLY571SER	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0020	Disease	p.GLY637SER	EHLERS-DANLOS SYNDROME, TYPE III
OMIM	120180.0001	Disease	p.GLY790SER	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0023	Disease	p.GLY793VAL	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0033	Disease	p.GLY883VAL	EHLERS-DANLOS SYNDROME, TYPE IV
OMIM	120180.0010	Disease	p.GLY910VAL	EHLERS-DANLOS SYNDROME, TYPE IV

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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