Table 3

Summary of non-amino acid substitution variants disrupting protein structure

Gene nameExonCodonCommon residueVariant residueAllele frequencyMouse residuecDNA sequence 5′→3′
RAD52 10346SerStop0.033LeuGCCCT(C/A)GTCTA
RAD52 11415TyrStop0.041LeuAAATA(T/G)GATCC
RAD50 8363QEHIaQE(Q)HI0.005QEHITCAAG(AAC/AACAAC)ATATC
RAD50 15826GlnStop0.005GlnCTGTC(C/T)AACAA
MRE11A 8333GlnStop0.009GlnCCATA(C/T)AAAGC
MSH6 161357TLIKEL(STOP)bTLID(STOP)0.020ALINGL(STOP)GACT(TTGA/TTGATTGA)TTAAG
  • a The wild-type human sequence is Gln-Glu-His-Ile, the variant sequence is Gln-Glu-Gln-His-Ile, and the mouse sequence is Gln-Glu-His-Ile.

  • b The human wild-type sequence is Thr-Leu-Ile-Lys-Glu-Leu, the variant sequence is Thr-Leu-Ile-Asp, and the mouse sequence is Ala-Leu-Ile-Asn-Gly-Leu.