Table 1

Identified nucleotide alteration in the cohort study

Nucleotide position*ChangeAmino acid change*LocationNumber of alleles that showed nucleotide changesConserved/not conservedFunctionTrio analysesResults of population studyIn silico database
c.691G>CV231LExon 44Not conservedrs11082414
c.1169C>TA390VExon 41Not conservedrs8091231
c.1879C>TR627CExon 43ConservedNoneNone
c.1911G>AP637P (synonymous)Exon 41-None
c.1932C>TS644S (synonymous)Exon 42-rs3744824
c.2607C>TS869S (synonymous)Exon 412-The Ski homology regionNone
c.2873A>GE958GExon 41ConservedNoneNone
c.3199G>AG1067SExon 41ConservedNoneNone
c.3301G>AV1101IExon 490Conservedrs3744825
c.3372C>TG1124G (synonymous)Exon 41-None
c.3388C>AP1130TExon 466Conservedrs1064204
c.3726G>CW1242CExon 41ConservedFamilialNoneNone
c.3825A>GS1275S (synonymous)Exon 42-rs8096662
c.4010G>CS1337S (synonymous)Exon 51-SET-binding regionNone
c.4398G>TE1466DExon 63ConservedSET-binding regionNone
c.4563C>GP1521P (synonymous)Exon 61-PPLPPPPP repeatNone
c.4577C>AP1526QExon 61ConservedPPLPPPPP repeatNone
c.4673A>TQ1558LExon 61ConservedFamilialNone
  • * Nucleotide and amino acid positions indicate NM_015559 sequence with the first initiation codon ATG at position 1.

  • Conserved or not conserved was determined by comparison with the other species.

  • Functional domains were obtained from Minakuchi et al (2001).12