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Table 1 Cerebral cortical malformations causing mutations detected in WDR62

From: A novel single base pair duplication in WDR62 causes primary microcephaly

Mutation  
DNA level Protein level Typea) Exon First reported
c.193 G > A p.Val65Met M 2 [13]
c.332G > C p.Arg111Thr M 3 [33]
c.363delT p.Asp122Metfsx5 SD 4 [16]
c.535_536insA p.Met179fsx21 SI 5 [24]
c.671G > C p.Trp224Ser M 6 [13]
c.900C > A p.Cys300Term N 8 [24]
c.1043 + 1G > A p.Ser348ArgfsX63 S 8 [16]
c.1142delA p.H381PfsX48 SD 9 [33]
c.1194G > A p.Trp398Term N 9 [33]
c.1198G > A pGlu400Lys M 9 [34]
c.1313G > A p.Arg438His M 10 [13]
c.1408C > T p.Gln470Term N 11 [5]
c.1531G > A p.Aps511Asn M 11 [13]
c.1576G > A p.Glu526Lys M 12 [5]
c.1576G > T p.Glu526Term N 12 [5]
c.1942C > T p.Gln648Term N 15 [35]
c.2083delA p.Ser696AlafsX4 SD 17 [36]
c.2115C > G p.Gly705Gly CS 17 [37]
c.2527dupG p.Asp843GlyfsX3 SI 22 Present study
c.2472_2473delAG p.Gln918GlyfsX18 SD 23 [36]
c.2867 + 4_c2867 + 7delGGTG p.Ser956CysfsX38 SD 23 [16]
c.2864-2867delACAG p.D955AfsX112 SD 23 [38]
c.3232G > A p.Ala1078Thr M 27 [13]
c.3361delG p.Ala1121GlnfsX5 SD 28 [33]
c.3503G > A p.W1168Term N 29 [33]
c.3839_3855delGCCAAGAGCCTGCCCTG p.Gly1280AlafsX21 SD 30 [5]
c.3936dupC p.Val1314ArgfsX18 SI 30 [13]
c.4205delTGCC p.V1402GfsX12 SD 31 [5]
c.4241dupT p.Leu1414LeufsX41 SI 31 [13]
c.1821dupT p.Arg608SerfsX26 I 14 [39]
  1. a)M = Missense, N = Nonsense, S = Splice-site affecting mutation, SI = small insertion, SD = Small deletion, CS = Cryptic splice site.