Results for the protein: P07357

Results for the Protein: P07357

729167

731

C8A

NCBI, UniProt

CO8A_HUMAN RecName: Full=Complement component C8 alpha chain; AltName: Full=Complement component 8 subunit alpha; Flags: Precursor

Known Diseases associated with this Protein:
COMPLEMENT C8 DEFICIENCY, TYPE I

1

7

1

6

1

Tips:

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Default View: TSP1 - smart00209 LDLa - smart00192 MACPF - smart00457	Swiss-Prot Protein: P07357 Identical to: NP_000553 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LDLa	smart00192	5.7e-12	95	127
MACPF	smart00457	1.6e-85	289	492

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1620075	Polymorphism	p.ARG485HIS	N/A
Swiss-Prot	VAR_011891	Polymorphism	p.ARG485LEU	N/A
dbSNP	rs17114555	Polymorphism	p.ASP458ASN	N/A
dbSNP	rs652785	Polymorphism	p.GLN93LYS	N/A
dbSNP	rs1342440	Polymorphism	p.GLU561GLN	N/A
dbSNP	rs17300936	Polymorphism	p.PRO575LEU	N/A
dbSNP	rs706479	Polymorphism	p.THR407ILE	N/A
OMIM	120950.0003	Disease	p.ARG394TER	COMPLEMENT C8 DEFICIENCY, TYPE I

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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