Results for the protein: P17813

Results for the Protein: P17813

3041681

2022

ENG

NCBI, UniProt

EGLN_HUMAN RecName: Full=Endoglin; AltName: CD_antigen=CD105; Flags: Precursor

Known Diseases associated with this Protein:
HEREDITARY HEMORRHAGIC TELANGIECTASIA
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, 1 (HHT1)

36

11

3

2

42

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Default View:	Swiss-Prot Protein: P17813 Identical to: NP_001108225 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_070279	Disease	p.ALA11ASP	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_009120	Disease	p.ALA160ASP	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070291	Disease	p.ALA308ASP	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070307	Disease	p.ALA604ASP	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070282	Disease	p.ALA175GLU	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070281	Polymorphism	p.ALA150PRO	N/A
Swiss-Prot	VAR_070299	Disease	p.ARG529HIS	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070284	Polymorphism	p.ARG205PRO	N/A
Swiss-Prot	VAR_070300	Disease	p.ARG529PRO	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070297	Disease	p.ARG437TRP	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070305	Polymorphism	p.ASP561ALA	N/A
dbSNP	rs1800956	Polymorphism	p.ASP366HIS	N/A
Swiss-Prot	VAR_005194	Disease	p.CYS53ARG	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070293	Disease	p.CYS363SER	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_026781	Disease	p.CYS412SER	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070295	Disease	p.CYS394TYR	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070304	Polymorphism	p.CYS549TYR	N/A
Swiss-Prot	VAR_070306	Disease	p.GLY603ARG	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070301	Disease	p.GLY545ASP	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070302	Polymorphism	p.GLY545SER	N/A
Swiss-Prot	VAR_037140	Disease	p.GLY413VAL	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_005193	Disease	p.GLY52VAL	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070289	Disease	p.ILE263SER	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070285	Disease	p.ILE220THR	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_026780	Disease	p.ILE263THR	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_026776	Disease	p.LEU107ARG	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070286	Disease	p.LEU221GLN	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_009121	Disease	p.LEU221PRO	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_005197	Disease	p.LEU306PRO	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070303	Disease	p.LEU547PRO	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_026774	Disease	p.LEU8PRO	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070298	Disease	p.LEU490SER	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070294	Polymorphism	p.LYS374GLU	N/A
Swiss-Prot	VAR_070290	Disease	p.MET269ARG	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070296	Polymorphism	p.MET414ARG	N/A
Swiss-Prot	VAR_026783	Disease	p.SER615LEU	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
dbSNP	rs35400405	Polymorphism	p.THR5MET	N/A
Swiss-Prot	VAR_005195	Disease	p.TRP149CYS	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070280	Disease	p.VAL105ASP	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070288	Disease	p.VAL238GLU	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_070287	Polymorphism	p.VAL236MET	N/A
Swiss-Prot	VAR_070292	Polymorphism	p.VAL315MET	N/A
Swiss-Prot	VAR_026782	Disease	p.VAL504MET	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
Swiss-Prot	VAR_026775	Disease	p.VAL49PHE	Telangiectasia, hereditary hemorrhagic, 1 (HHT1)
OMIM	131195.0007	Disease	p.GLY413VAL	HEREDITARY HEMORRHAGIC TELANGIECTASIA
OMIM	131195.0009	Disease	p.TYR120TER	HEREDITARY HEMORRHAGIC TELANGIECTASIA
OMIM	131195.0001	Disease	p.TYR277TER	HEREDITARY HEMORRHAGIC TELANGIECTASIA

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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