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Table 2 Annotation of 6 exonic variants of unknown significance, found by WES in the recruited patients

From: Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

WBS patients 1 2 3 3 3 3
Exome analysis Trio Trio Solo Solo Solo Solo
Variant Chr16:2647248 A > G Chr22:38642099A > G Chr3:196612953 T > A Chr6:15496807 G > C Chr6:30919581 C > T Chr13:35716473 A > G
Gene PDPK1 TMEM184B SENP5 JARID2 DPCR1 NBEA
Transcript NM_002613.4 NM_001195072.1 NM_152699.4 NM_004973.3 NM_080870.3 NM_015678.4
Nucleotide variant c.1526A > G c.2 T > C c.901 T > A c.1351G > C c.3340C > T c.2404A > G
Protein variant p.Lys509Arg p.Met1? p.Cys301Ser p.Glu451Gln p.Pro1114Ser p.Thr802Ala
Variant effect Missense Start lost Missense Missense Missense Missense
Genotype Heterozygous Heterozygous Heterozygous Heterozygous Heterozygous Heterozygous
ExAC occurrence 0 0 0 0 1 0
Inheritance de novo de novo ND ND ND ND
Cerebral expression (GTEx) + + + + +
SIFT, Polyphen2, Mutation Taster P, P, P C, B, P B, B, P C, C, P NA, I, B B, I, P
Arguments Reported in neurodevelopmental syndrome [12] Gene function [13] Animal study [14] Reported in association with autism [15, 16] Reported in association with neuropsychiatric disorders [17] Autism candidate gene [18, 19]
  1. WES whole exome sequencing, WBS Williams Beuren Syndrome, NA not available, ND not done, P pathogenic, C contradictory, B benign, I intermediary