Results for the protein: O14791

Results for the Protein: O14791

206729940

8542

APOL1

NCBI, UniProt

APOL1_HUMAN RecName: Full=Apolipoprotein L1; AltName: Full=Apolipoprotein L; Short=Apo-L; Short=ApoL; AltName: Full=Apolipoprotein L-I; Short=ApoL-I; Flags: Precursor

Known Diseases associated with this Protein:
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4 (FSGS4)

2

7

0

6

3

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Default View: ApoL - pfam05461	Swiss-Prot Protein: O14791 Identical to: NP_001130012, NP_003652 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs136176	Polymorphism	p.ARG255LYS	N/A
dbSNP	rs16996616	Polymorphism	p.ASP337ASN	N/A
dbSNP	rs2239785	Polymorphism	p.GLU150LYS	N/A
dbSNP	rs60910145	Polymorphism	p.ILE384MET	N/A
Swiss-Prot	VAR_061995	Disease	p.ILE384MET	Focal segmental glomerulosclerosis 4 (FSGS4)
Swiss-Prot	VAR_036568	Polymorphism	p.ILE188THR	N/A
dbSNP	rs136175	Polymorphism	p.MET228ILE	N/A
dbSNP	rs73885319	Polymorphism	p.SER342GLY	N/A
Swiss-Prot	VAR_063598	Disease	p.SER342GLY	Focal segmental glomerulosclerosis 4 (FSGS4)

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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