Results for the protein: P98172

Results for the Protein: P98172

1706668

1947

EFNB1

NCBI, UniProt

EFNB1_HUMAN RecName: Full=Ephrin-B1; AltName: Full=EFL-3; AltName: Full=ELK ligand; Short=ELK-L; AltName: Full=EPH-related receptor tyrosine kinase ligand 2; Short=LERK-2; Flags: Precursor

Known Diseases associated with this Protein:
CRANIOFRONTONASAL SYNDROME
CRANIOFRONTONASAL SYNDROME (CFNS)

28

3

9

1

21

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Default View:	Swiss-Prot Protein: P98172 Identical to: NP_004420 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_023142	Polymorphism	p.ARG154HIS	N/A
Swiss-Prot	VAR_023140	Disease	p.CYS153SER	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023141	Disease	p.CYS153TYR	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023132	Disease	p.GLN115PRO	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023138	Disease	p.GLY151SER	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023139	Disease	p.GLY151VAL	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023129	Disease	p.ILE62THR	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023130	Disease	p.LEU98SER	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023144	Disease	p.MET158ILE	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023145	Disease	p.MET158VAL	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023127	Disease	p.PRO27ARG	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023133	Disease	p.PRO119HIS	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023128	Disease	p.PRO54LEU	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023134	Disease	p.PRO119SER	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023135	Disease	p.PRO119THR	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023146	Disease	p.SER182ARG	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023137	Disease	p.SER138PHE	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023136	Disease	p.THR137ALA	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_023131	Disease	p.THR111ILE	Craniofrontonasal syndrome (CFNS)
Swiss-Prot	VAR_059256	Polymorphism	p.THR172MET	N/A
Swiss-Prot	VAR_023143	Disease	p.THR155PRO	Craniofrontonasal syndrome (CFNS)
dbSNP	rs16989105	Polymorphism	p.VAL189ALA	N/A
OMIM	300035.0010	Disease	p.ARG66TER	CRANIOFRONTONASAL SYNDROME
OMIM	300035.0004	Disease	p.GLY151SER	CRANIOFRONTONASAL SYNDROME
OMIM	300035.0005	Disease	p.GLY151VAL	CRANIOFRONTONASAL SYNDROME
OMIM	300035.0007	Disease	p.MET158ILE	CRANIOFRONTONASAL SYNDROME
OMIM	300035.0006	Disease	p.MET158VAL	CRANIOFRONTONASAL SYNDROME
OMIM	300035.0003	Disease	p.PRO54LEU	CRANIOFRONTONASAL SYNDROME
OMIM	300035.0002	Disease	p.THR111ILE	CRANIOFRONTONASAL SYNDROME
OMIM	300035.0008	Disease	p.TRP37GLY	CRANIOFRONTONASAL SYNDROME
OMIM	300035.0009	Disease	p.TRP37TER	CRANIOFRONTONASAL SYNDROME

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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