Table 2 Details of discovered rare missense mutations and in silico analyses.

From: Rare single-nucleotide DAB1 variants and their contribution to Schizophrenia and autism spectrum disorder susceptibility

Chr

Positiona

dbSNP IDb

Transcript variant

Protein variant

SCZ (n = 370)

ASD (n = 192)

our cohort MAFc

gnomADc,d

ESPc

jMorp (4.7KJPN)

HGVD Frequency

In silico analysis

SIFT

PolyPhen-2

1

57480856

rs915578825

c.1144 G > T

p.G382C

1 F

0

1/1124

–

–

–

–

Damaging

Probably Damaging

1

57538009

rs755758685

c.385 G > A

p.V129I

1 M

0

1/1124

4/251140

–

0.0008

0.0009

Damaging

Probably Damaging

  1. Chr Chromosome, SCZ schizophrenia, ASD autism spectrum disorders, MAF minor allele frequency, gnomAD Genome Aggregation Database, ESP Exome Sequencing Project, jMorp Japanese Multi Omics Reference Panel, HGVD Human Genetic Variation Database, F Female, M Male.
  2. aGenomic position based on NCBI builds GRCh 37 (Transcript ID ENST00000371236.2).
  3. bdbSNP Build 154.
  4. cminor allele count/total allele count.
  5. dgnomAD v2.1.1.
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