Results for the protein: O76090

Results for the Protein: O76090

6175195

7439

BEST1

NCBI, UniProt

BEST1_HUMAN RecName: Full=Bestrophin-1; AltName: Full=TU15B; AltName: Full=Vitelliform macular dystrophy protein 2

Known Diseases associated with this Protein:
  ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY (AVMD)
  BEST MACULAR DYSTROPHY
  BEST VITELLIFORM MACULAR DYSTROPHY, MULT
  BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCA
  BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
  BESTROPHINOPATHY, AUTOSOMAL RECESSIVE (ARB)
  BESTROPHINOPATHY, AUTOSOMAL RECESSIVE, INCLUDED;;
  MACULOPATHY, BULL'S-EYE
  MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA
  RETINITIS PIGMENTOSA 50
  RETINITIS PIGMENTOSA 50 (RP50)
  RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
  VITELLIFORM MACULAR DYSTROPHY 2 (VMD2)
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED
  VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED;;
  VITREORETINOCHOROIDOPATHY
  VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT (ADVIRC)

126

12

23

1

114

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Default View:	Swiss-Prot Protein: O76090 Identical to: NP_004174 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_010479	Disease	p.ALA146LYS	Adult-onset vitelliform macular dystrophy (AVMD)
Swiss-Prot	VAR_000833	Disease	p.ALA10THR	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025739	Disease	p.ALA243THR	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010468	Disease	p.ALA10VAL	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017381	Disease	p.ALA195VAL	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000858	Disease	p.ALA243VAL	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_043496	Polymorphism	p.ALA357VAL	N/A
Swiss-Prot	VAR_025731	Polymorphism	p.ARG105CYS	N/A
Swiss-Prot	VAR_000849	Disease	p.ARG218CYS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010474	Disease	p.ARG92CYS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000850	Disease	p.ARG218GLN	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000836	Disease	p.ARG25GLN	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010469	Disease	p.ARG13HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000847	Disease	p.ARG141HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010481	Disease	p.ARG218HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017372	Disease	p.ARG47HIS	Adult-onset vitelliform macular dystrophy (AVMD)
Swiss-Prot	VAR_010475	Disease	p.ARG92HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000851	Disease	p.ARG218SER	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000842	Disease	p.ARG92SER	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000837	Disease	p.ARG25TRP	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025744	Disease	p.ASN296HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017367	Disease	p.ASN11ILE	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017379	Disease	p.ASN133LYS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000844	Disease	p.ASN99LYS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010484	Disease	p.ASN296SER	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025753	Disease	p.ASN308SER	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_063171	Disease	p.ASP228ASN	Retinitis pigmentosa 50 (RP50)
Swiss-Prot	VAR_000864	Disease	p.ASP301ASN	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000868	Disease	p.ASP312ASN	Bestrophinopathy, autosomal recessive (ARB)
Swiss-Prot	VAR_000846	Disease	p.ASP104GLU	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000863	Disease	p.ASP301GLU	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025749	Disease	p.ASP303GLU	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025746	Disease	p.ASP302GLY	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017378	Disease	p.ASP104HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025747	Disease	p.ASP302HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025748	Disease	p.ASP302VAL	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025735	Disease	p.CYS221TRP	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010476	Disease	p.GLN96HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000839	Disease	p.GLN58LEU	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010483	Disease	p.GLN293LYS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010488	Polymorphism	p.GLU525ALA	N/A
Swiss-Prot	VAR_010486	Disease	p.GLU300ASP	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025750	Disease	p.GLU306ASP	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010477	Polymorphism	p.GLU119GLN	N/A
Swiss-Prot	VAR_025751	Disease	p.GLU306GLY	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000862	Disease	p.GLU300LYS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010489	Polymorphism	p.GLU557LYS	N/A
Swiss-Prot	VAR_009278	Polymorphism	p.GLU578VAL	N/A
Swiss-Prot	VAR_058313	Disease	p.GLY299ALA	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017368	Disease	p.GLY26ARG	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000861	Disease	p.GLY299GLU	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010478	Disease	p.GLY135SER	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025736	Polymorphism	p.GLY222VAL	N/A
Swiss-Prot	VAR_010472	Disease	p.ILE73ASN	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025733	Disease	p.ILE201THR	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_063170	Disease	p.ILE205THR	Retinitis pigmentosa 50 (RP50)
Swiss-Prot	VAR_025743	Disease	p.ILE295THR	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_058273	Disease	p.ILE3THR	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000866	Disease	p.ILE310THR	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000845	Disease	p.LEU100ARG	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017380	Disease	p.LEU140ARG	Vitelliform macular dystrophy 2 (VMD2)
dbSNP	rs74653691	Disease	p.LEU207ILE	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000852	Disease	p.LEU224MET	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010491	Polymorphism	p.LEU567PHE	N/A
Swiss-Prot	VAR_025737	Disease	p.LEU224PRO	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017371	Disease	p.LEU41PRO	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_063169	Disease	p.LEU140VAL	Retinitis pigmentosa 50 (RP50)
Swiss-Prot	VAR_000834	Disease	p.LEU21VAL	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025742	Disease	p.LEU294VAL	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000840	Polymorphism	p.LEU67VAL	N/A
Swiss-Prot	VAR_010473	Disease	p.LEU82VAL	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017370	Disease	p.LYS30ARG	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_043495	Disease	p.MET325THR	Bestrophinopathy, autosomal recessive (ARB)
Swiss-Prot	VAR_010471	Disease	p.PHE17CYS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025732	Disease	p.PHE113LEU	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025741	Disease	p.PHE276LEU	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017373	Disease	p.PHE80LEU	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025745	Disease	p.PHE298SER	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000865	Disease	p.PHE305SER	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_043493	Disease	p.PRO152ALA	Bestrophinopathy, autosomal recessive (ARB)
Swiss-Prot	VAR_000860	Disease	p.PRO297ALA	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010485	Disease	p.PRO297SER	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017376	Disease	p.PRO101THR	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000855	Disease	p.SER231ARG	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000838	Disease	p.SER27ARG	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000848	Disease	p.SER209ASN	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010470	Disease	p.SER16PHE	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025752	Disease	p.THR307ALA	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010490	Polymorphism	p.THR561ALA	N/A
Swiss-Prot	VAR_000857	Disease	p.THR237ARG	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017366	Disease	p.THR6ARG	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025738	Disease	p.THR241ASN	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_010480	Polymorphism	p.THR216ILE	N/A
Swiss-Prot	VAR_010487	Disease	p.THR307ILE	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017375	Disease	p.THR91ILE	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000830	Disease	p.THR6PRO	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017377	Disease	p.TRP102ARG	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000835	Disease	p.TRP24CYS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000843	Disease	p.TRP93CYS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000854	Disease	p.TYR227ASN	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000853	Disease	p.TYR227CYS	Retinitis pigmentosa 50 (RP50)
Swiss-Prot	VAR_058275	Disease	p.TYR236CYS	Vitreoretinochoroidopathy, autosomal dominant (ADVIRC)
Swiss-Prot	VAR_017369	Disease	p.TYR29HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000841	Disease	p.TYR85HIS	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_017374	Disease	p.VAL89ALA	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000831	Disease	p.VAL9ALA	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000867	Disease	p.VAL311GLY	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_025740	Polymorphism	p.VAL275ILE	N/A
Swiss-Prot	VAR_010482	Disease	p.VAL235LEU	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_000856	Disease	p.VAL235MET	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_058276	Disease	p.VAL239MET	Vitreoretinochoroidopathy, autosomal dominant (ADVIRC)
Swiss-Prot	VAR_058277	Disease	p.VAL242MET	Vitelliform macular dystrophy 2 (VMD2)
Swiss-Prot	VAR_043494	Disease	p.VAL317MET	Bestrophinopathy, autosomal recessive (ARB)
Swiss-Prot	VAR_058274	Disease	p.VAL86MET	Vitreoretinochoroidopathy, autosomal dominant (ADVIRC)
Swiss-Prot	VAR_000832	Disease	p.VAL9MET	Vitelliform macular dystrophy 2 (VMD2)
OMIM	607854.0009	Disease	p.ALA206LYS	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
OMIM	607854.0010	Disease	p.ALA303VAL	BEST MACULAR DYSTROPHY\|\|VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED
OMIM	607854.0011	Disease	p.ARG107HIS	VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET
OMIM	607854.0013	Disease	p.ARG201HIS	BEST MACULAR DYSTROPHY\|\|BESTROPHINOPATHY, AUTOSOMAL RECESSIVE, INCLUDED;;\|\|BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCA
OMIM	607854.0015	Disease	p.ARG260TER	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
OMIM	607854.0023	Disease	p.ASP288ASN	RETINITIS PIGMENTOSA 50\|\|RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
OMIM	607854.0008	Disease	p.GLU179GLN	MACULOPATHY, BULL'S-EYE
OMIM	607854.0003	Disease	p.GLY359GLU	BEST MACULAR DYSTROPHY
OMIM	607854.0022	Disease	p.ILE265THR	RETINITIS PIGMENTOSA 50
OMIM	607854.0018	Disease	p.LEU101PRO	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
OMIM	607854.0025	Disease	p.LEU200VAL	RETINITIS PIGMENTOSA 50
OMIM	607854.0005	Disease	p.THR66PRO	BEST MACULAR DYSTROPHY\|\|VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET, INCLUDED;;\|\|BEST VITELLIFORM MACULAR DYSTROPHY, MULT
OMIM	607854.0001	Disease	p.TRP153CYS	BEST MACULAR DYSTROPHY
OMIM	607854.0004	Disease	p.TYR287ASN	BEST MACULAR DYSTROPHY
OMIM	607854.0024	Disease	p.TYR287CYS	BEST MACULAR DYSTROPHY\|\|RETINITIS PIGMENTOSA, CONCENTRIC, INCLUDED
OMIM	607854.0021	Disease	p.TYR296CYS	VITREORETINOCHOROIDOPATHY
OMIM	607854.0002	Disease	p.TYR145HIS	BEST MACULAR DYSTROPHY
OMIM	607854.0014	Disease	p.TYR89TER	BEST MACULAR DYSTROPHY
OMIM	607854.0026	Disease	p.VAL295ALA	VITREORETINOCHOROIDOPATHY
OMIM	607854.0019	Disease	p.VAL146MET	VITREORETINOCHOROIDOPATHY
OMIM	607854.0020	Disease	p.VAL299MET	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA
OMIM	607854.0017	Disease	p.VAL377MET	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
OMIM	607854.0007	Disease	p.VAL69MET	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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258