Results for the protein: Q8IVL6

Results for the Protein: Q8IVL6

74714366

10536

LEPREL2

NCBI, UniProt

P3H3_HUMAN RecName: Full=Prolyl 3-hydroxylase 3; AltName: Full=Leprecan-like protein 2; AltName: Full=Protein B; Flags: Precursor

			0 8 0 4 4

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Default View: P4Hc - smart00702	Swiss-Prot Protein: Q8IVL6 Identical to: NP_055077 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_050444	Polymorphism	p.ARG304CYS	N/A
dbSNP	rs76248966	Polymorphism	p.ARG514GLN	N/A
dbSNP	rs1129646	Polymorphism	p.ARG519LEU	N/A
dbSNP	rs3213431	Polymorphism	p.CYS705ARG	N/A
dbSNP	rs1047771	Polymorphism	p.GLY385GLU	N/A
Swiss-Prot	VAR_050446	Polymorphism	p.ILE685THR	N/A
Swiss-Prot	VAR_050447	Polymorphism	p.MET705THR	N/A
Swiss-Prot	VAR_050443	Polymorphism	p.THR301ALA	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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