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Table 3 Summary of the SNVs identified in the linkage peaks using exome sequencing

From: Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family

Alteration Gene Amino acid alteration CADD PHRED/GERP P-value** (one-tailed)
chr1(GRCh37):g.186329959A > G TPR p.(Ile346Thr) 23.9/4.47 0.012
chr1(GRCh37):g.206566903G > A SRGAP2 p.(Arg148Hist) 34/5.6 1.0
chr14(GRCh37):g.14_17delinsAATG* ACOT4 p.(Ala189_Tyr190delinsGlnCys) 22/5.25 0.058
  1. Only SNVs identified in at least 4 affected individuals, resulting in missense or loss-of-function, with a frequency less than 0.01 in the general SNV databases are listed
  2. Chr14g.14_17delinsAATG* indicate the alteration g.74060514_74060517delinsAATG on chromosome 14
  3. Transcripts used for the annotations were NM_003292 (TPR), NM_001271872 (SRGAP2), and NM_152331 (ACOT4)
  4. ** P-values are not corrected for the three tests that were performed
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BMC Medical Genomics

ISSN: 1755-8794

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