Results for the protein: Q9NZR4

Results for the Protein: Q9NZR4

25009572

30813

VSX1

NCBI, UniProt

VSX1_HUMAN RecName: Full=Visual system homeobox 1; AltName: Full=Homeodomain protein RINX; AltName: Full=Retinal inner nuclear layer homeobox protein; AltName: Full=Transcription factor VSX1

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
  CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
  CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME (CAASDS)
  KERATOCONUS 1
  KERATOCONUS 1 (KTCN1)
  KERATOCONUS 1, INCLUDED
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

11

5

5

1

10

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Default View: HOX - smart00389	Swiss-Prot Protein: Q9NZR4 Identical to: NP_055403 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_066672	Disease	p.ALA256SER	Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS)
Swiss-Prot	VAR_066671	Polymorphism	p.ARG131SER	N/A
Swiss-Prot	VAR_014246	Disease	p.ARG166TRP	Keratoconus 1 (KTCN1)
dbSNP	rs6115023	Polymorphism	p.ASP105GLU	N/A
Swiss-Prot	VAR_014243	Disease	p.ASP144GLU	Keratoconus 1 (KTCN1)
Swiss-Prot	VAR_063100	Disease	p.GLN175HIS	Keratoconus 1 (KTCN1)
Swiss-Prot	VAR_014245	Polymorphism	p.GLY160ASP	N/A
Swiss-Prot	VAR_014247	Polymorphism	p.HIS244ARG	N/A
Swiss-Prot	VAR_014244	Disease	p.LEU159MET	Keratoconus 1 (KTCN1)
Swiss-Prot	VAR_066670	Disease	p.LEU17PRO	Keratoconus 1 (KTCN1)
Swiss-Prot	VAR_014248	Polymorphism	p.PRO247ARG	N/A
OMIM	605020.0004	Disease	p.ALA256SER	CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME
OMIM	605020.0001	Disease	p.ARG166TRP	KERATOCONUS 1
OMIM	605020.0002	Disease	p.GLY160ASP	CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1\|\|KERATOCONUS 1, INCLUDED
OMIM	605020.0003	Disease	p.LEU159MET	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	605020.0005	Disease	p.LEU17PRO	KERATOCONUS 1

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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