Results for the protein: P48357

Results for the Protein: P48357

116242617

54741

LEPR

NCBI, UniProt

LEPR_HUMAN RecName: Full=Leptin receptor; Short=LEP-R; AltName: Full=HuB219; AltName: Full=OB receptor; Short=OB-R; AltName: CD_antigen=CD295; Flags: Precursor

			0 8 0 4 4

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Default View: FN3 - smart00060 FN3 - cd00063 Lep_receptor_Ig - pfam06328	Swiss-Prot Protein: P48357 Identical to: NP_002294 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FN3	cd00063	0.0007	738	829
FN3	smart00060	6.9e-11	237	317
Lep_receptor_Ig	pfam06328	9e-47	331	422

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_049167	Polymorphism	p.ASP124GLY	N/A
dbSNP	rs1137101	Polymorphism	p.GLN223ARG	N/A
Swiss-Prot	VAR_028201	Polymorphism	p.ILE503VAL	N/A
dbSNP	rs1137100	Polymorphism	p.LYS109ARG	N/A
Swiss-Prot	VAR_002704	Polymorphism	p.LYS204ARG	N/A
dbSNP	rs8179183	Polymorphism	p.LYS656ASN	N/A
Swiss-Prot	VAR_002707	Polymorphism	p.SER675THR	N/A
dbSNP	rs34499590	Polymorphism	p.THR699MET	N/A

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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