Results for the protein: P10643

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CCP	cd00033	2.1e-12	571	627
CCP	cd00033	3.8e-10	631	689
Ldl_recept_a	pfam00057	2.7e-07	83	119
MACPF	pfam01823	2e-66	227	448
Sushi	pfam00084	1.3e-06	571	626
TSP1	smart00209	5.5e-10	30	80
LDLa	smart00192	2.1e-08	84	116
MACPF	smart00457	2.9e-74	250	450
TSP1	smart00209	3.1e-08	503	551
CCP	smart00032	6.3e-12	571	626
CCP	smart00032	1.3e-09	631	688
FIMAC	smart00057	2.3e-37	696	765
FIMAC	smart00057	1e-34	770	840

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_012643	Disease	p.ARG220GLN	Complement component 7 deficiency (C7D)
dbSNP	rs75345202	Polymorphism	p.ARG222HIS	N/A
Swiss-Prot	VAR_012647	Disease	p.ARG687HIS	Complement component 7 deficiency (C7D)
Swiss-Prot	VAR_012645	Disease	p.ARG521SER	Complement component 7 deficiency (C7D)
dbSNP	rs2271708	Polymorphism	p.CYS128ARG	N/A
Swiss-Prot	VAR_012646	Disease	p.GLU682GLN	Complement component 7 deficiency (C7D)
Swiss-Prot	VAR_012644	Disease	p.GLY379ARG	Complement component 7 deficiency (C7D)
dbSNP	rs3792646	Polymorphism	p.LYS420GLN	N/A
dbSNP	rs1063499	Polymorphism	p.SER389THR	N/A
dbSNP	rs13157656	Polymorphism	p.THR587PRO	N/A
dbSNP	rs60714178	Polymorphism	p.THR598SER	N/A
OMIM	217070.0003	Disease	p.ARG499SER	C7 DEFICIENCY\|\|C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
OMIM	217070.0009	Disease	p.CYS464TER	C7 DEFICIENCY
OMIM	217070.0001	Disease	p.CYS728TER	C7 DEFICIENCY
OMIM	217070.0006	Disease	p.GLY357ARG	C7 DEFICIENCY

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258