Results for the protein: Q8TAA9

Results for the Protein: Q8TAA9

38258809

81839

VANGL1

NCBI, UniProt

VANG1_HUMAN RecName: Full=Vang-like protein 1; AltName: Full=Loop-tail protein 2 homolog; Short=LPP2; AltName: Full=Strabismus 2; AltName: Full=Van Gogh-like protein 1

Known Diseases associated with this Protein:
  CAUDAL REGRESSION SYNDROME
  NEURAL TUBE DEFECTS
  NEURAL TUBE DEFECTS (NTD)
  SACRAL DEFECT WITH ANTERIOR MENINGOCELE (SDAM)

6

12

3

1

14

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Default View: Strabismus - pfam06638	Swiss-Prot Protein: Q8TAA9 Identical to: NP_620409, NP_001165883 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_062329	Polymorphism	p.ALA404SER	N/A
dbSNP	rs4839469	Polymorphism	p.ALA116THR	N/A
Swiss-Prot	VAR_062324	Polymorphism	p.ARG175GLN	N/A
Swiss-Prot	VAR_062325	Polymorphism	p.ARG181GLN	N/A
Swiss-Prot	VAR_035210	Disease	p.ARG274GLN	Neural tube defects (NTD)
Swiss-Prot	VAR_062330	Polymorphism	p.ASP468GLU	N/A
Swiss-Prot	VAR_035435	Polymorphism	p.GLU347ALA	N/A
Swiss-Prot	VAR_062321	Polymorphism	p.GLU25LYS	N/A
Swiss-Prot	VAR_062326	Polymorphism	p.LEU202PHE	N/A
Swiss-Prot	VAR_035211	Disease	p.MET328THR	Neural tube defects (NTD)
Swiss-Prot	VAR_062323	Polymorphism	p.PHE153SER	N/A
Swiss-Prot	VAR_062322	Polymorphism	p.SER83LEU	N/A
Swiss-Prot	VAR_062327	Polymorphism	p.THR251MET	N/A
Swiss-Prot	VAR_062328	Polymorphism	p.TYR290HIS	N/A
Swiss-Prot	VAR_035209	Disease	p.VAL239ILE	Sacral defect with anterior meningocele (SDAM)
OMIM	610132.0002	Disease	p.ARG274GLN	NEURAL TUBE DEFECTS
OMIM	610132.0003	Disease	p.MET328THR	NEURAL TUBE DEFECTS
OMIM	610132.0001	Disease	p.VAL239ILE	CAUDAL REGRESSION 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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