Results for the protein: P37023

Results for the Protein: P37023

3915750

94

ACVRL1

NCBI, UniProt

ACVL1_HUMAN RecName: Full=Serine/threonine-protein kinase receptor R3; Short=SKR3; AltName: Full=Activin receptor-like kinase 1; Short=ALK-1; AltName: Full=TGF-B superfamily receptor type I; Short=TSR-I; Flags: Precursor

Known Diseases associated with this Protein:
  PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-R
  PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
  TELANGIECTASIA, HEREDITARY HEMORRHAGIC, 2 (HHT2)
  TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
  TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II

80

8

11

0

77

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Default View: TGF_beta_GS - pfam08515 GS - smart00467 STYKc - smart00221 Pkinase_Tyr - pfam07714 TyrKc - smart00219 S_TKc - smart00220	Swiss-Prot Protein: P37023 Identical to: NP_001070869, NP_000011 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GS	smart00467	1.3e-14	172	202
Pkinase_Tyr	pfam07714	1.5e-17	202	489
TyrKc	smart00219	5.6e-14	202	489
STYKc	smart00221	8.9e-16	202	474
S_TKc	smart00220	2.9e-16	212	493

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070334	Disease	p.ALA347ASP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026795	Disease	p.ALA306PRO	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026799	Disease	p.ALA347PRO	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070336	Polymorphism	p.ALA400THR	N/A
Swiss-Prot	VAR_026814	Disease	p.ALA482VAL	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026800	Disease	p.ARG374GLN	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_006213	Disease	p.ARG411GLN	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_006206	Disease	p.ARG67GLN	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026813	Disease	p.ARG479LEU	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026808	Disease	p.ARG411PRO	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070343	Disease	p.ARG479PRO	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_006211	Disease	p.ARG374TRP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026809	Disease	p.ARG411TRP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026815	Disease	p.ARG484TRP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026786	Disease	p.ARG67TRP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_006208	Disease	p.ASN96ASP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070331	Disease	p.ASN335HIS	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070315	Disease	p.ASN96SER	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026787	Disease	p.ASP179ALA	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026804	Disease	p.ASP397GLY	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070317	Disease	p.ASP176TYR	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070333	Disease	p.CYS344ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070314	Disease	p.CYS69ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_006207	Disease	p.CYS77TRP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070309	Disease	p.CYS34TYR	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026798	Disease	p.CYS344TYR	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_006205	Disease	p.CYS51TYR	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070323	Disease	p.GLN237LYS	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026807	Disease	p.GLU407ASP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026789	Disease	p.GLU215LYS	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026803	Disease	p.GLU379LYS	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026790	Disease	p.GLY223ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026785	Disease	p.GLY48ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026788	Disease	p.GLY211ASP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070320	Disease	p.GLY219ASP	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070338	Disease	p.GLY416SER	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070327	Disease	p.HIS280ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070330	Disease	p.HIS328GLN	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070313	Disease	p.HIS66PRO	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026796	Disease	p.HIS314TYR	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_011717	Polymorphism	p.ILE245ASN	N/A
Swiss-Prot	VAR_026805	Disease	p.ILE398ASN	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070324	Disease	p.ILE260LEU	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070329	Disease	p.LEU294ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026794	Disease	p.LEU285PHE	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070316	Polymorphism	p.LEU138PRO	N/A
Swiss-Prot	VAR_070328	Disease	p.LEU289PRO	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026797	Disease	p.LEU337PRO	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070332	Polymorphism	p.LEU342PRO	N/A
Swiss-Prot	VAR_070337	Disease	p.LEU403PRO	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026791	Disease	p.LYS229ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070344	Polymorphism	p.LYS486GLU	N/A
Swiss-Prot	VAR_026816	Disease	p.LYS487THR	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_006212	Disease	p.MET376ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026801	Disease	p.MET376VAL	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026810	Disease	p.PHE425LEU	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026811	Disease	p.PHE425VAL	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070339	Disease	p.PRO424ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070341	Disease	p.PRO433ARG	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026802	Disease	p.PRO378LEU	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070308	Polymorphism	p.PRO30SER	N/A
Swiss-Prot	VAR_070335	Disease	p.PRO378SER	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070342	Disease	p.PRO449SER	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_006214	Disease	p.PRO424THR	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070310	Polymorphism	p.SER38CYS	N/A
Swiss-Prot	VAR_006210	Disease	p.SER333ILE	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070322	Disease	p.SER233LEU	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070312	Disease	p.THR52ALA	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070318	Disease	p.THR197ILE	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070326	Polymorphism	p.THR277LYS	N/A
Swiss-Prot	VAR_070325	Disease	p.THR265PRO	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_006204	Disease	p.TRP50CYS	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070319	Disease	p.TRP217GLY	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070311	Disease	p.TRP50GLY	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_026806	Disease	p.TRP399SER	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070340	Disease	p.TYR426CYS	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
Swiss-Prot	VAR_070321	Disease	p.VAL226GLU	Telangiectasia, hereditary hemorrhagic, 2 (HHT2)
OMIM	601284.0001	Disease	p.ARG411GLN	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2\|\|PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-R
OMIM	601284.0015	Disease	p.ARG411PRO	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II
OMIM	601284.0007	Disease	p.ARG374TRP	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2\|\|PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-R
OMIM	601284.0009	Disease	p.ARG411TRP	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2\|\|PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-R
OMIM	601284.0010	Disease	p.ARG484TRP	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2\|\|PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-R
OMIM	601284.0012	Disease	p.CYS344TYR	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2\|\|PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-R
OMIM	601284.0011	Disease	p.GLY211ASP	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED
OMIM	601284.0006	Disease	p.ILE398ASN	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
OMIM	601284.0002	Disease	p.MET376ARG	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
OMIM	601284.0004	Disease	p.TRP150CYS	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
OMIM	601284.0013	Disease	p.TRP399SER	PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED

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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