Results for the protein: NP

Results for the Protein: NP_001132915

212720889

7439

BEST1

NCBI

bestrophin-1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  BEST MACULAR DYSTROPHY
  BEST VITELLIFORM MACULAR DYSTROPHY, MULT
  BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCA
  BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
  BESTROPHINOPATHY, AUTOSOMAL RECESSIVE, INCLUDED;;
  MACULOPATHY, BULL'S-EYE
  MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA
  RETINITIS PIGMENTOSA 50
  RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED;;
  VITREORETINOCHOROIDOPATHY

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3

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Default View: Bestrophin - pfam01062	RefSeq Protein: NP_001132915 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	rs115979721	Polymorphism	p.ALA541SER	N/A
dbSNP	rs74653691	Polymorphism	p.LEU147ILE	N/A
dbSNP	rs17185413	Polymorphism	p.SER583PRO	N/A
OMIM	607854.0009	Disease	p.ALA146LYS	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
OMIM	607854.0010	Disease	p.ALA243VAL	BEST MACULAR DYSTROPHY\|\|VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED
OMIM	607854.0013	Disease	p.ARG141HIS	BEST MACULAR DYSTROPHY\|\|BESTROPHINOPATHY, AUTOSOMAL RECESSIVE, INCLUDED;;\|\|BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCA
OMIM	607854.0011	Disease	p.ARG47HIS	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
OMIM	607854.0015	Disease	p.ARG200TER	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
OMIM	607854.0023	Disease	p.ASP228ASN	RETINITIS PIGMENTOSA 50\|\|RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
OMIM	607854.0008	Disease	p.GLU119GLN	MACULOPATHY, BULL'S-EYE
OMIM	607854.0003	Disease	p.GLY299GLU	BEST MACULAR DYSTROPHY
OMIM	607854.0022	Disease	p.ILE205THR	RETINITIS PIGMENTOSA 50
OMIM	607854.0018	Disease	p.LEU41PRO	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
OMIM	607854.0025	Disease	p.LEU140VAL	RETINITIS PIGMENTOSA 50
OMIM	607854.0005	Disease	p.THR6PRO	BEST MACULAR DYSTROPHY\|\|VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED;;\|\|BEST VITELLIFORM MACULAR DYSTROPHY, MULT
OMIM	607854.0001	Disease	p.TRP93CYS	BEST MACULAR DYSTROPHY
OMIM	607854.0004	Disease	p.TYR227ASN	BEST MACULAR DYSTROPHY
OMIM	607854.0024	Disease	p.TYR227CYS	BEST MACULAR DYSTROPHY\|\|RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
OMIM	607854.0021	Disease	p.TYR236CYS	VITREORETINOCHOROIDOPATHY
OMIM	607854.0002	Disease	p.TYR85HIS	BEST MACULAR DYSTROPHY
OMIM	607854.0014	Disease	p.TYR29TER	BEST MACULAR DYSTROPHY
OMIM	607854.0026	Disease	p.VAL235ALA	VITREORETINOCHOROIDOPATHY
OMIM	607854.0020	Disease	p.VAL239MET	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA
OMIM	607854.0017	Disease	p.VAL317MET	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
OMIM	607854.0019	Disease	p.VAL86MET	VITREORETINOCHOROIDOPATHY
OMIM	607854.0007	Disease	p.VAL9MET	BEST MACULAR DYSTROPHY

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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