Results for the protein: Q02809

Results for the Protein: Q02809

78099790

5351

PLOD1

NCBI, UniProt

PLOD1_HUMAN RecName: Full=Procollagen-lysine,2-oxoglutarate 5-dioxygenase 1; AltName: Full=Lysyl hydroxylase 1; Short=LH1; Flags: Precursor

Known Diseases associated with this Protein:
EHLERS-DANLOS SYNDROME 6 (EDS6)
EHLERS-DANLOS SYNDROME, TYPE VI

10

5

5

3

7

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Default View: P4Hc - smart00702 2OG-FeII_Oxy - pfam03171	Swiss-Prot Protein: Q02809 Identical to: NP_000293 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
P4Hc	smart00702	7.5e-38	553	726

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2273285	Polymorphism	p.ALA120SER	N/A
Swiss-Prot	VAR_023467	Disease	p.ALA667THR	Ehlers-Danlos syndrome 6 (EDS6)
dbSNP	rs34878020	Polymorphism	p.ALA84THR	N/A
dbSNP	rs7551175	Polymorphism	p.ALA99THR	N/A
Swiss-Prot	VAR_035479	Polymorphism	p.GLN123HIS	N/A
Swiss-Prot	VAR_032754	Polymorphism	p.GLU67ASP	N/A
Swiss-Prot	VAR_006356	Disease	p.GLY678ARG	Ehlers-Danlos syndrome 6 (EDS6)
Swiss-Prot	VAR_023468	Disease	p.HIS706ARG	Ehlers-Danlos syndrome 6 (EDS6)
Swiss-Prot	VAR_006355	Disease	p.TRP612CYS	Ehlers-Danlos syndrome 6 (EDS6)
Swiss-Prot	VAR_023466	Disease	p.TRP446GLY	Ehlers-Danlos syndrome 6 (EDS6)
OMIM	153454.0001	Disease	p.ARG319TER	EHLERS-DANLOS SYNDROME, TYPE VI
OMIM	153454.0010	Disease	p.ARG670TER	EHLERS-DANLOS SYNDROME, TYPE VI
OMIM	153454.0003	Disease	p.GLY678ARG	EHLERS-DANLOS SYNDROME, TYPE VI
OMIM	153454.0009	Disease	p.TRP612CYS	EHLERS-DANLOS SYNDROME, TYPE VI
OMIM	153454.0007	Disease	p.TYR511TER	EHLERS-DANLOS SYNDROME, TYPE VI

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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