LOVD - Variant listings for BEST1

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The variants below are all in the BEST1 database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
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269 entries
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01 c.-221C>T - p.0? 0.416 Marquardt;0.437 Kraemer - Marquardt 1998;Kraemer 2000 DNA SEQ, SSCA r.(?)
01 c.-206T>C - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-64A>G - p.=? - - dbSNP DNA SEQ -
01 c.-63T>C - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-61A>G - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-60T>C - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-42C>T - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-28C>G - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-15G>A - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-8G>C - p.=? - - dbSNP DNA SEQ r.(?)
01 c.-2C>T - p.=? - - dbSNP DNA SEQ r.(?)
01 ? c.-118C>T p.0? 0.417 Allikmets Since the authors used another reference cDNA sequence, position is probably not -118. Allikmets 1999 DNA SEQ, SSCP r.(?)
02 c.1A>G - p.Met1? - - dbSNP DNA SEQ r.(?)
02 c.5C>A - p.Thr2Asn - No studies were done to confirm that this variant is absent in healthy individuals. Wong 2010 DNA SEQ r.(?)
02 c.8T>C - p.Ile3Thr - - Boon 2009 DNA SEQ r.(?)
02 c.10A>G
  (Reported 2 times)
- p.Thr4Ala - - Querques et al. 2009 DNA SEQ -
02 c.15C>A - p.Tyr5X - No mutation carriers found in 100 control individuals. The father of the patient, who carryies only this mutation, has normal vision. Lacassagne DNA PCR, SEQ -
02 c.16A>C
  (Reported 14 times)
- p.Thr6Pro - - Kraemer 2000;dbSNP DNA SEQ r.(?)
02 c.16A>G - p.Thr6Ala - - Apushkin 2006 DNA SEQ r.(?)
02 c.17C>G - p.Thr6Arg - - Lotery 2000 DNA SEQ r.(?)
02 c.21C>T - p.=? - - dbSNP DNA SEQ r.(?)
02 c.25G>A
  (Reported 3 times)
- p.Val9Met - - Kraemer 2000 DNA SEQ r.(?)
02 c.26?>C c.26A>C p.Val9Ala - c.26 is a T. Position is probably false. Familial case Petrukhin 1998 DNA SEQ r.(?)
02 c.26T>A - p.Val9Glu - - Maia-Lopes et al. 2008 DNA SEQ r.(?)
02 c.26T>C
  (Reported 4 times)
- p.Val9Ala - - Querques et al. 2009 DNA SEQ -
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02 c.28G>A
  (Reported 2 times)
- p.Ala10Thr - - Kraemer 2000 DNA SEQ r.(?)
02 c.29C>T - p.Ala10Val - - Bakall 1999 DNA SEQ r.(?)
02 c.32A>T - p.Asn11Ile - - Kraemer 2003 DNA SEQ r.(?)
02 c.38G>A c.142G>A p.Arg13His - - Caldwell 1999 DNA SEQ r.(?)
02 c.44G>A
  (Reported 2 times)
- p.Gly15Asp - - Querques et al. 2009 DNA SEQ -
02 c.47C>A - p.Ser16Tyr - No mutation carriers found in 185 control individuals. Boon 2007 DNA SEQ r.(?)
02 c.47C>T - p.Ser16Phe - - Marchant 2001 DNA SEQ r.(?)
02 c.50T>G
  (Reported 2 times)
- p.Phe17Cys - - Lotery 2000 DNA SEQ r.(?)
02 c.58C>G c.58C>G p.Leu20Val p.Leu20Val - - Bitner 2012 DNA SEQ -
02 c.61C>G
  (Reported 2 times)
- p.Leu21Val - - Kraemer 2000 DNA SEQ r.(?)
02 c.72G>T
  (Reported 3 times)
- p.Trp24Cys - - Marquardt 1998 DNA SEQ r.(?)
02 c.73C>T
  (Reported 5 times)
- p.Arg25Trp - - Kraemer 2000 DNA SEQ r.(?)
02 c.74G>A - p.Arg25Gln - - Marquardt 1998 DNA SEQ r.(?)
02 c.76G>C - p.Gly26Arg - - Kraemer 2003 DNA SEQ r.(?)
02 c.77G>A - p.Gly26Asp - - dbSNP DNA SEQ r.(?)
02 c.81C>G - p.Ser27Arg - - Kraemer 2000 DNA SEQ r.(?)
02 c.85T>C - p.Tyr29His - - Kraemer 2003 DNA SEQ r.(?)
02 c.87C>G - p.Tyr29X - - Schatz 2006 DNA SEQ r.(?)
02 c.87C>T c.191C>T p.Tyr29Tyr - - Caldwell 1999 DNA SEQ r.(?)
02 c.88A>T - p.Lys30* - - dbSNP DNA SEQ r.(?)
02 c.89A>G
  (Reported 4 times)
- p.Lys30Arg - - Lotery 2000 DNA SEQ r.(?)
02 c.102C>T
  (Reported 2 times)
c.102C>T p.Gly34Gly - Synonymous variant leads to alteration of pre-mRNA splicing according to in vitro splice assay. Davidson et al. 2010 DNA SEQ p.Glu35TrpfsX11
02 c.103G>A - p.Glu35Lys - - Maia-Lopes et al. 2008 DNA SEQ r.(?)
02 c.109T>C - p.Leu37Leu 0.483 dbSNP;0.397 Marquardt;0.044 Lotery - Marquardt 1998;Petrukhin 1998;Lotery 2000;Marchant 2001;dbSNP DNA SEQ, SSCP, SSCA r.(?)
02 c.122T>C
  (Reported 5 times)
- p.Leu41Pro - - Kraemer 2003 DNA SEQ r.(?)
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02 c.129C>A - p.Tyr43* - - dbSNP DNA SEQ r.(?)
02 c.131A>C - p.Tyr44Ser - - dbSNP DNA SEQ r.(?)
02 c.139C>T
  (Reported 4 times)
c.139C>T p.Arg47Cys p.Arg47Cys - The mutation was absent in 300 healthy controls of Italian origin. Sodi 2011 DNA SEQ -
02 c.140G>A - p.Arg47His - - Kraemer 2000 DNA SEQ r.(?)
05 c.626G>A
  (Reported 2 times)
- p.Ser209Asn - - Kraemer 2000 DNA SEQ r.(?)
03 c.? - p.Thr55Thr 0/192 Best, 1/642 AMD, 0/384 controls Lotery - Lotery 2000 DNA SSCP r.(?)
03 c.176A>T - p.Gln58Leu - - Kraemer 2000 DNA SEQ r.(?)
03 c.184T>C - p.Phe62Leu - - dbSNP DNA SEQ r.(?)
03 c.186T>C - p.=? - - dbSNP DNA SEQ r.(?)
03 c.187G>A - p.Glu63Lys - - dbSNP DNA SEQ r.(?)
03 c.201G>C c.305G>C p.Leu67Leu 0.050 Allikmets - dbSNP;Allikmets 1999 DNA SEQ, SSCP r.(?)
03 c.207C>G - p.Cys69Trp - - dbSNP DNA SEQ r.(?)
03 c.209A>C - p.Asp70Ala - - dbSNP DNA SEQ r.(?)
03 c.213C>T - p.=? - - dbSNP DNA SEQ r.(?)
03 c.216C>T - p.=? - - dbSNP DNA SEQ r.(?)
03 c.218T>A - p.Ile73Asn - - Marchant 2001 DNA SEQ r.(?)
03 c.219C>A c.323C>A p.Ile73Ile 0.475 dbSNP; 0.158 Allikmets; 0.080 Kraemer; 0.219 Lotery - dbSNP;Caldwell 1999;Petrukhin 1998;Caldwell 1999;Allikmets 1999;Kraemer 2000;Lotery 2000;Marchant2001 DNA SEQ, HD, SSCA r.(?)
03 c.222G>A c.326G>A p.Gln74Gln - - dbSNP;Allikmets 1999 DNA SEQ, SSCP r.(?)
03 c.223C>T c.223C>T p.Leu75Phe - 6/9 mutation carriers have confirmed VMD. Three carriers have normal fundus but reduced Arden Index. Two homozygote patients have similar phenotype than heterozygotes. Wong 2010 DNA SEQ r.(?)
03 c.225C>T - p.=? - - dbSNP DNA SEQ r.(?)
03 c.240C>A - p.Phe80Leu - - Lotery 2000 DNA SEQ r.(?)
03 c.240C>G - p.Phe80Leu - - Maia-Lopes et al. 2008 DNA SEQ r.(?)
03 c.244C>G
  (Reported 4 times)
- p.Leu82Val - - Bakall 1999 DNA SEQ r.(?)
03 c.248-32C>T - - 1/116 Best, 0/94 normal Kraemer - Kraemer 2003 DNA SSCP r.(?)
03 c.248-26C>T - - 2/116 Best, 0/94 normal Kraemer - Kraemer 2003 DNA SSCP r.(?)
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03 c.248-17C>T - - 1/116 Best, 0/94 normal Kraemer - Kraemer 2003 DNA SSCP r.(?)
03 c.248-12C>T - - 0.021 Kraemer - Kraemer 2003 DNA SSCP r.(?)
04 c.253T>C
  (Reported 8 times)
- p.Tyr85His - - Petrukhin 1998;dbSNP DNA SEQ r.(?)
04 c.256G>A
  (Reported 2 times)
- p.Val86Met - Identified in three families with single ancestral mutation. Heterozygous individuals produce three bestrophin isoforms: normal, one containing a missense substitution and the other an in-frame deletion. Mutation leads to skipping of exon 4. Yardley 2004 DNA SEQ r.(?)
04 c.266T>C c.360T>C p.Val89Ala p.Val89Ala - - Eksandh 2001 DNA SEQ r.(?)
04 c.267C>G - p.=? - - dbSNP DNA SEQ r.(?)
04 c.272C>T
  (Reported 3 times)
- p.Thr91Ile - - Lotery 2000 DNA SEQ r.(?)
04 c.274C>A - p.Arg92Ser - - Kraemer 2000 DNA SEQ r.(?)
04 c.274C>T
  (Reported 4 times)
- p.Arg92Cys - - Bakall 1999 DNA SEQ r.(?)
04 c.275G>A
  (Reported 5 times)
- p.Arg92His - - Marchant 2001 DNA SEQ r.(?)
04 c.279G>C - p.Trp93Cys - - Petrukhin 1998;dbSNP DNA SEQ r.(?)
04 c.288G>C - p.Gln96His - - Bakall 1999 DNA SEQ r.(?)
04 c.295A>C c.295A>C p.Asn99His p.Asn99His - Variant is predicted to be benign by Polyphen2 and a polymorphism by MutationTaster. Genotype frequencies not available. Additional information would be necessary to categorize this variant. Bitner 2012 DNA SEQ -
04 c.297C>A
  (Reported 2 times)
- p.Asn99Lys - - Kraemer 2000 DNA SEQ r.(?)
04 c.299T>G
  (Reported 3 times)
- p.Leu100Arg - - Kraemer 2000 DNA SEQ r.(?)
04 c.301C>A
  (Reported 2 times)
- p.Pro101Thr - - Lotery 2000 DNA SEQ r.(?)
04 c.304T>C - p.Trp102Arg - - Kraemer 2003 DNA SEQ r.(?)
04 c.310G>C - p.Asp104His - - Kraemer 2003 DNA SEQ r.(?)
04 c.312C>A
  (Reported 2 times)
- p.Asp104Glu - - Petrukhin 1998 DNA SEQ r.(?)
04 c.313C>T - p.Arg105Cys 0/87 Best, 1/321 AMD, 0/192 controls Lotery - Lotery 2000 DNA SSCP r.(?)
04 c.331T>G - p.Ser111Ala - - dbSNP DNA SEQ r.(?)
04 c.334G>A - p.Gly112Ser - - dbSNP DNA SEQ r.(?)
04 c.339C>G - p.Phe113Leu - - Li 2006 DNA SEQ, SSCP r.(?)
04 c.355G>C
  (Reported 2 times)
- p.Glu119Gln 0/57 Best, 1/321 AMD, 0/192 controls Lotery - Lotery 2000;dbSNP DNA SEQ, SSCP r.(?)
04 c.388C>A
  (Reported 4 times)
- p.Arg130Ser - Variant absent in 50 European controls. Heterozygote parents had normal clinical findings Piņeiro-Gallego 2011 DNA SEQ -
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Legend: [ BEST1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Variant
original
description:
Original report Protein: Variation at protein level. Frequency: Frequency if variant is non pathogenic. Variant remarks: Variant remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA.