Results for the protein: P01024

Results for the Protein: P01024

119370332

718

C3

NCBI, UniProt

CO3_HUMAN RecName: Full=Complement C3; AltName: Full=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1; Contains: RecName: Full=Complement C3 beta chain; Contains: RecName: Full=Complement C3 alpha chain; Contains: RecName: Full=C3a anaphylatoxin; Contains: RecName: Full=Acylation stimulating protein; Short=ASP; AltName: Full=C3adesArg; Contains: RecName: Full=Complement C3b alpha' chain; Contains: RecName: Full=Complement C3c alpha' chain fragment 1; Contains: RecName: Full=Complement C3dg fragment; Contains: RecName: Full=Complement C3g fragment; Contains: RecName: Full=Complement C3d fragment; Contains: RecName: Full=Complement C3f fragment; Contains: RecName: Full=Complement C3c alpha' chain fragment 2; Flags: Precursor

Known Diseases associated with this Protein:
  COMPLEMENT COMPONENT 3 DEFICIENCY (C3D)
  HEMOLYTIC UREMIC SYNDROME ATYPICAL 5 (AHUS5)
  HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
  MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO

17

11

6

3

19

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Swiss-Prot Protein: P01024

Identical to: NP_000055

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ISOPREN_C2_like	cd00688	7.3e-74	996	1282
A2M_like	cd02891	7.3e-115	996	1282
complement_C3_C4_C5	cd02896	2e-166	996	1282
A2M_2	cd02897	2.5e-48	1000	1282
NTR_complement_C5	cd03582	2.8e-05	1506	1661
NTR_complement_C4	cd03584	6.5e-13	1511	1661
NTR_complement_C3	cd03583	1.1e-103	1513	1661
NTR_complement_C345C	cd03574	4.8e-63	1518	1661
A2M_N	pfam01835	2.7e-31	129	224
ANATO	pfam01821	1.9e-16	693	728
A2M	pfam00207	9.3e-46	770	866
NTR	pfam01759	2.8e-43	1534	1644
MG1	pfam11974	6e-15	14	115
A2M_N_2	pfam07703	7.2e-37	456	605
ANATO	smart00104	8.5e-16	693	728
Thiol-ester_cl	pfam10569	9.4e-16	1000	1029
A2M_comp	pfam07678	7.2e-72	1051	1284
A2M_recep	pfam07677	4.7e-50	1398	1493
C345C	smart00643	2.3e-50	1533	1644

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063216	Disease	p.ALA1094VAL	Hemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-Prot	VAR_001986	Disease	p.ARG1320GLN	Complement component 3 deficiency (C3D)
Swiss-Prot	VAR_063213	Disease	p.ARG592GLN	Hemolytic uremic syndrome atypical 5 (AHUS5)
dbSNP	rs2230199	Polymorphism	p.ARG102GLY	N/A
Swiss-Prot	VAR_063655	Disease	p.ARG1042LEU	Hemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-Prot	VAR_019206	Polymorphism	p.ARG863LYS	N/A
Swiss-Prot	VAR_063214	Disease	p.ARG592TRP	Hemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-Prot	VAR_063215	Disease	p.ARG735TRP	Hemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-Prot	VAR_063217	Disease	p.ASP1115ASN	Hemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-Prot	VAR_022761	Polymorphism	p.ASP1216ASN	N/A
Swiss-Prot	VAR_001985	Disease	p.ASP549ASN	Complement component 3 deficiency (C3D)
Swiss-Prot	VAR_063218	Disease	p.CYS1158TRP	Hemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-Prot	VAR_029792	Polymorphism	p.GLN1521ARG	N/A
Swiss-Prot	VAR_063219	Disease	p.GLN1161LYS	Hemolytic uremic syndrome atypical 5 (AHUS5)
dbSNP	rs11569422	Polymorphism	p.GLU469ASP	N/A
Swiss-Prot	VAR_019207	Polymorphism	p.GLY1224ASP	N/A
Swiss-Prot	VAR_029793	Polymorphism	p.HIS1601ASN	N/A
Swiss-Prot	VAR_063220	Disease	p.HIS1464ASP	Hemolytic uremic syndrome atypical 5 (AHUS5)
Swiss-Prot	VAR_019208	Polymorphism	p.ILE1367THR	N/A
Swiss-Prot	VAR_063654	Disease	p.PHE603VAL	Hemolytic uremic syndrome atypical 5 (AHUS5)
dbSNP	rs1047286	Polymorphism	p.PRO314LEU	N/A
Swiss-Prot	VAR_029326	Polymorphism	p.SER1619ARG	N/A
OMIM	120700.0006	Disease	p.ALA1072VAL	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
OMIM	120700.0005	Disease	p.ARG570GLN	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
OMIM	120700.0001	Polymorphism	p.ARG102GLY	MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO\|\|C3S/C3F POLYMORPHISM
OMIM	120700.0007	Disease	p.ASP1093ASN	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
OMIM	120700.0010	Disease	p.LYS155GLN	MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
OMIM	120700.0008	Disease	p.TYR832TER	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5

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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