Results for the protein: P06858

Results for the Protein: P06858

126314

4023

LPL

NCBI, UniProt

LIPL_HUMAN RecName: Full=Lipoprotein lipase; Short=LPL; Flags: Precursor

Known Diseases associated with this Protein:
  COMBINED HYPERLIPIDEMIA, FAMILIAL
  LIPOPROTEIN LIPASE (OLBIA)
  LIPOPROTEIN LIPASE DEFICIENCY
  LIPOPROTEIN LIPASE DEFICIENCY (LPL DEFICIENCY)

97

5

29

1

72

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Default View: LH2 - smart00308	Swiss-Prot Protein: P06858 Identical to: NP_000228 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 ↕
Swiss-Prot	VAR_004220	Disease	p.ALA185THR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004222	Disease	p.ALA203THR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_011949	Polymorphism	p.ALA288THR	N/A
Swiss-Prot	VAR_004242	Disease	p.ALA361THR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_011952	Polymorphism	p.ALA427THR	N/A
Swiss-Prot	VAR_057916	Disease	p.ALA98THR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057931	Disease	p.ARG270CYS	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004233	Disease	p.ARG270HIS	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004211	Disease	p.ARG102SER	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004239	Disease	p.ASN318SER	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057914	Disease	p.ASN70SER	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004218	Disease	p.ASP183ASN	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004235	Disease	p.ASP277ASN	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_011948	Disease	p.ASP36ASN	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004223	Disease	p.ASP207GLU	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004229	Disease	p.ASP231GLU	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004217	Disease	p.ASP183GLY	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057920	Disease	p.ASP183HIS	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057923	Disease	p.ASP201VAL	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057937	Disease	p.CYS305ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004232	Disease	p.CYS243SER	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057930	Disease	p.CYS266TRP	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057938	Disease	p.CYS310TYR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057944	Disease	p.CYS445TYR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057922	Disease	p.GLU190GLY	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004245	Disease	p.GLU437LYS	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057945	Disease	p.GLU448LYS	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004246	Disease	p.GLU437VAL	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057918	Disease	p.GLY132ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057926	Disease	p.GLY215ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004215	Disease	p.GLY169GLU	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057921	Disease	p.GLY186GLU	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004225	Disease	p.GLY215GLU	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004228	Disease	p.GLY222GLU	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004216	Disease	p.GLY181SER	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057919	Disease	p.GLY181VAL	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004214	Disease	p.HIS163ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057925	Disease	p.HIS210ASP	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004224	Disease	p.HIS210GLN	Lipoprotein lipase deficiency (LPL deficiency)
dbSNP	rs11542065	Polymorphism	p.HIS71GLN	N/A
Swiss-Prot	VAR_004230	Disease	p.ILE232SER	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004227	Disease	p.ILE221THR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057929	Disease	p.ILE252THR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057932	Disease	p.LEU279ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057936	Disease	p.LEU303PHE	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057942	Disease	p.LEU330PHE	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057939	Disease	p.LEU313PRO	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004241	Disease	p.LEU330PRO	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057933	Disease	p.LEU279VAL	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004243	Disease	p.LEU392VAL	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057927	Disease	p.LYS225ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057941	Disease	p.MET328ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004240	Disease	p.MET328THR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057935	Disease	p.PHE297LEU	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004219	Disease	p.PRO184ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004231	Disease	p.PRO234LEU	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004226	Disease	p.SER220ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004238	Disease	p.SER286ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057940	Disease	p.SER325ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004221	Disease	p.SER199CYS	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004236	Disease	p.SER278CYS	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004237	Disease	p.SER286GLY	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057943	Disease	p.SER365PHE	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004234	Disease	p.SER271THR	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057917	Disease	p.THR128ALA	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_011951	Polymorphism	p.THR379ALA	N/A
Swiss-Prot	VAR_004213	Disease	p.TRP113ARG	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_004212	Disease	p.TRP113GLY	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057934	Disease	p.TYR289HIS	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057928	Disease	p.VAL227ALA	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057924	Disease	p.VAL208ILE	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_057915	Disease	p.VAL96LEU	Lipoprotein lipase deficiency (LPL deficiency)
Swiss-Prot	VAR_011950	Polymorphism	p.VAL370MET	N/A
OMIM	609708.0001	Disease	p.ALA176THR	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0025	Disease	p.ALA334THR	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0031	Disease	p.ARG243CYS	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0011	Disease	p.ARG243HIS	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0027	Disease	p.ARG75SER	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0033	Disease	p.ASN291SER	COMBINED HYPERLIPIDEMIA, FAMILIAL
OMIM	609708.0020	Disease	p.ASP250ASN	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0035	Disease	p.ASP9ASN	COMBINED HYPERLIPIDEMIA, FAMILIAL
OMIM	609708.0030	Disease	p.ASP180GLU	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0018	Disease	p.ASP204GLU	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0013	Disease	p.ASP156GLY	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0040	Disease	p.CYS239TRP	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0036	Disease	p.CYS418TYR	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0006	Disease	p.GLN106TER	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0012	Disease	p.GLY142GLU	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0002	Disease	p.GLY188GLU	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0029	Disease	p.GLY195GLU	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0010	Disease	p.ILE194THR	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0037	Disease	p.ILE225THR	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0034	Disease	p.LEU365VAL	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0009	Disease	p.PRO207LEU	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0026	Disease	p.SER172CYS	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0007	Disease	p.SER244THR	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0021	Disease	p.TRP86ARG	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0017	Disease	p.TRP382TER	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0023	Disease	p.TRP64TER	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0039	Disease	p.TYR302TER	LIPOPROTEIN LIPASE DEFICIENCY\|\|LIPOPROTEIN LIPASE (OLBIA)
OMIM	609708.0016	Disease	p.TYR61TER	LIPOPROTEIN LIPASE DEFICIENCY
OMIM	609708.0028	Disease	p.TYR73TER	LIPOPROTEIN LIPASE 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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