Results for the protein: P01031

Results for the Protein: P01031

166900096

727

C5

NCBI, UniProt

CO5_HUMAN RecName: Full=Complement C5; AltName: Full=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4; Contains: RecName: Full=Complement C5 beta chain; Contains: RecName: Full=Complement C5 alpha chain; Contains: RecName: Full=C5a anaphylatoxin; Contains: RecName: Full=Complement C5 alpha' chain; Flags: Precursor

Known Diseases associated with this Protein:
COMPLEMENT COMPONENT 5 DEFICIENCY

2

17

2

6

11

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Swiss-Prot Protein: P01031

Identical to: NP_001726

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ISOPREN_C2_like	cd00688	2.2e-51	993	1300
A2M_like	cd02891	6.2e-88	993	1300
complement_C3_C4_C5	cd02896	2e-138	993	1300
A2M_2	cd02897	2e-20	993	1300
NTR_complement_C4	cd03584	8.6e-11	1525	1676
NTR_complement_C5	cd03582	2.3e-111	1527	1676
NTR_complement_C3	cd03583	1.4e-12	1527	1676
NTR_complement_C345C	cd03574	1.3e-61	1532	1676
NTR_like	cd03523	1.1e-48	1550	1669
A2M_N	pfam01835	1.1e-25	125	219
ANATO	pfam01821	1.1e-12	698	732
A2M	pfam00207	1.4e-40	772	859
NTR	pfam01759	3.1e-33	1550	1661
MG1	pfam11974	2.6e-11	7	111
A2M_N_2	pfam07703	4.6e-36	465	612
ANATO	smart00104	3.9e-12	698	732
A2M_comp	pfam07678	7.8e-95	1051	1302
A2M_recep	pfam07677	1.5e-37	1419	1509
C345C	smart00643	6.2e-39	1549	1661

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038737	Polymorphism	p.ARG928GLN	N/A
Swiss-Prot	VAR_038736	Polymorphism	p.ARG449GLY	N/A
dbSNP	rs2230213	Polymorphism	p.ARG449TRP	N/A
Swiss-Prot	VAR_038740	Polymorphism	p.ASP1037ASN	N/A
dbSNP	rs2230212	Polymorphism	p.ASP966TYR	N/A
dbSNP	rs41311887	Polymorphism	p.GLN1043LYS	N/A
dbSNP	rs17612	Polymorphism	p.GLU1437ASP	N/A
Swiss-Prot	VAR_038738	Polymorphism	p.GLY933VAL	N/A
Swiss-Prot	VAR_038739	Polymorphism	p.ILE1033THR	N/A
Swiss-Prot	VAR_048822	Polymorphism	p.LEU354MET	N/A
Swiss-Prot	VAR_014575	Polymorphism	p.MET1053LEU	N/A
Swiss-Prot	VAR_001996	Polymorphism	p.PHE518SER	N/A
Swiss-Prot	VAR_014576	Polymorphism	p.SER1310ASN	N/A
Swiss-Prot	VAR_023946	Polymorphism	p.THR389ILE	N/A
Swiss-Prot	VAR_048824	Polymorphism	p.VAL1365ALA	N/A
dbSNP	rs17216529	Polymorphism	p.VAL145ILE	N/A
dbSNP	rs17611	Polymorphism	p.VAL802ILE	N/A
OMIM	120900.0002	Disease	p.ARG1458TER	COMPLEMENT COMPONENT 5 DEFICIENCY
OMIM	120900.0001	Disease	p.GLN84TER	COMPLEMENT COMPONENT 5 DEFICIENCY

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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