Results for the protein: NP

Results for the Protein: NP_001188326

319655697

1910

EDNRB

NCBI

endothelin B receptor isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  ABCD SYNDROME
  HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
  WAARDENBURG SYNDROME, TYPE 4A
  WAARDENBURG SYNDROME, TYPE 4A, INCLUDED

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5

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Default View: 7tm_1 - pfam00001	RefSeq Protein: NP_001188326 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 ↕
dbSNP	rs2228271	Polymorphism	p.ARG166MET	N/A
dbSNP	rs1801710	Polymorphism	p.GLY147SER	N/A
dbSNP	rs5346	Polymorphism	p.LEU107PHE	N/A
dbSNP	rs5352	Polymorphism	p.SER395ASN	N/A
dbSNP	rs5350	Polymorphism	p.THR334MET	N/A
OMIM	131244.0002	Disease	p.ALA183GLY	WAARDENBURG SYNDROME, TYPE 4A
OMIM	131244.0008	Disease	p.ARG201TER	ABCD SYNDROME
OMIM	131244.0007	Disease	p.ARG253TER	WAARDENBURG SYNDROME, TYPE 4A
OMIM	131244.0005	Disease	p.GLY57SER	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
OMIM	131244.0009	Disease	p.LYS15TER	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
OMIM	131244.0006	Disease	p.SER305ASN	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2
OMIM	131244.0001	Disease	p.TRP276CYS	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2\|\|WAARDENBURG SYNDROME, TYPE 4A, INCLUDED
OMIM	131244.0003	Disease	p.TRP275TER	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2

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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