Skip to main content

Table 1 TYR gene genotypes of OCA patients tested at University of Minnesota

From: Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W

Patient ID Allele 1 Allele 2
MN1 c.1118C>A, p.T373K  
MN2 c.1118C>A, p.T373K  
MN3 c.1118C>A, p.T373K  
MN4 c.665T>C, p.I222T  
MN5 c.1118C>A, p.T373K  
MN6 c.446A>G, p.Y149C  
MN7 c.242C>T, p.P81L  
MN8 c.140G>A, p.G47D  
MN9 c.346C>T, p.R116*  
MN10 c.832C>T, p.R278*  
MN11 c.650G>A, p.R217Q  
MN12 c.286dupA, p.M96Nfs*73  
MN13 c.71G>A, p.C24Y  
MN14 c.1037-7T>A, IVS2-7  
MN15a c.820-2A>G, IVS1-2  
MN16 c.572delG, p.G191Dfs*35  
MN17 c.1467dupT, p.A490Cfs*20  
MN18 c.242C>T, p.P81L  
MN19 c.1118C>A, p.T373K  
MN20 c.823G>T, p.V275F  
MN21 c.1366+4 A>G, IVS4+4  
MN22 c.1366+4 A>G, IVS4+4  
MN23 c.242C>T, p.P81L c.649C>T, p.R217W
MN24 c.929dupC, p.R311Kfs*7 c.929dupC, p.R311Kfs*7
MN25 c.140G>A, p.G47D c.140G>A, p.G47D
MN26a c.820-7T>A, IVS1-7 c.1090A>C, p.N364H
MN27a c.732_733delTG, p.Cys244* c.823G>T, p.V275F
MN28 c.1111A>T, p.N371Y c.1118C>A, p.T373K
MN29a c.1184+1 G>A, IVS3+1 c.1184+1 G>A, IVS3+1
MN30 c.140G>A, p.G47D c.140G>A, p.G47D
MN31 c.1118C>A, p.T373K c.1467dupT, p.A490Cfs*20
MN32 c.661G>A, p.E221K c.1118C>A, p.T373K
MN33 c.1A>G, p.M1? c.1217C>T, p.P406L
MN34 c.242C>T, p.P81L c.1204C>T, p.R402*
MN35 c.896G>A, p.R299H c.1199G>T, p.W400L
MN36 c.242C>T, p.P81L c.1036+2T>G, IVS2+2
MN37 c.1217C>T, p.R406L c.1392dup, p.Lys465* (novel)
MN38 c.832C>T, p.R278* c.1264C>T, p.R422W
MN39a c.32G>A, p.W11* c.895C>A, p.R299S
MN40 c.606T>G, p.H202Q c.1036+2T>G, IVS2+2
MN41 c.242C>T, p.P81L c.1118C>A, p.T373K
MN42a c.572delG, p.G191Dfs*35 c.1150C>G, p.P384A
MN43 c.1037-7T>A, IVS2-7 c.1037-1G>A, IVS2-1
MN44 c.242C>T, p.P81L c.1204C>T, p.R402*
MN45 c.1118C>A, p.T373K c.1147G>A, p.D383N
MN46 c.242C>T, p.P81L c.1037-7T>A, IVS2-7
MN47 c.242C>T, p.P81L c.1217C>T, p.P406L
MN48a c.149C>T, p.S50L c.892C>T, p.R298W
MN49 c.678 680delAGG, p.G227del c.1118C>A, p.T373K
MN50 c.613C>A, p.P205T c.823G>T, p.V275F
MN51 c.650G>A, p.R217Q c.1118C>A, p.T373K
MN52 c.71G>A, p.C24Y c.758G>A, p.G253E
MN53 c.242C>T, p.P81L c.1111A>T, p.N371Y
MN54 c.1147G>A, p.D383N c.1309G>A, p.D437N
MN55 c.823G>T, p.V275F c.1118C>A, p.T373K
MN56a c.895C>T, R299C c.1199G>T, W400L
MN57 c.1265G>A, p.R422Q c.1467dupT, p.A490Cfs*20
MN58 c.1118C>A, p.T373K c.1209G>T, p.R403S
MN59 c.229C>T, p.R77W c.572delG, p.G191Dfs*35
MN60 c.140G>A, p.G47D c.650G>A, p.R217Q
MN61 c.896G>A, p.R299H c.896G>A, p.R299H
MN62 c.649C>T, p.R217W c.1118C>A, p.T373K
MN63 c.230G>A, p.R77Q c.230G>A, p.R77Q
MN64 c.1118C>A, p.T373K c.1118C>A, p.T373K
MN65 c.1146C>A, p.N382K c.649delC, p.R217Gfs*9
MN66 c.230G>A, p.R77Q c.230G>A, p.R77Q
MN67 c.642 644delCTT, p.F214del c.930_931insG, p.R311Efs*7 (novel)
MN68 c.650G>A, p.R217Q c.823G>T, p.V275F
  1. Asterisk represents termination codon
  2. aThe pathogenic alleles in these patients have been reported previously [7]
Back to article page

Cell & Bioscience

ISSN: 2045-3701

Contact us