Skip to main content

Table 1 Combined rare damaging variants among Wnt/PCP genes in human NTD samples

From: Genetic analysis of Wnt/PCP genes in neural tube defects

Sample Gene Variant Chr. Positiona Minor/major allele Sex Phenotypeb SIFTc PP2d MAF in ExACe
NTD_27 CELSR2 p.Thr2026Met 1 109,810,233 T/C M SB D D 0.000009415
  DVL3 p.Asp403Asn 3 183,885,376 A/G    D P NAf
NTD_39 CELSR2 p.Arg2480Cys 1 109,813,177 T/C M SB D D 0.00003766
  FZD7 p.Leu383Gln 2 202,900,518 A/T    D D NA
NTD_122 CELSR2 p.Arg1990His 1 109,808,784 A/G M EC D P 0.0001318
  CELSR3 p.Arg1194His 3 48,696,487 T/C    D D 0.00002825
NTD_15 LRP6 p.Arg386Cys 12 12,334,194 A/G F AE,SB D D 0.000273
  CELSR1 p.Arg714His 22 46,930,927 T/C    D D NA
NTD_56 CELSR2 p.Arg2626Cys 1 109,814,294 T/C NA SB D P 0.0004425
  FZD5 p.Trp242Leu 2 208,632,739 A/C    D D NA
NTD_19 VANGL1 p.Arg207His 1 116,206,697 A/G F SB D D 0.00001883
  CELSR1 p.Thr1086Met 22 46,929,811 A/G    D D 0.0001318
  1. aPositions are given in bp from GRCh37
  2. bSB, spinabifida; EC, encephalocele; AE, anencephaly
  3. cSIFT predictions: D, deleterious
  4. dPolyPhen2 (PP2) predictions: D, probably damaging; P, possibly damaging
  5. eMAF from Exome Aggregation Consortium (ExAC) database
  6. fNot available