Table 1

The table illustrates MVK gene mutations with RefSeq mRNA (NM_000431.2)

NM_000431.2 (Chr 12)
rs104895334c.16_34del; p.Leu6_Gly12delinsGlyfsCCTACTGGTGTCTGCTCCGGCWTWTWTHETWTWT
rs104895336c.G394A; p.V132IGAHETWTWTWTWTWT
rs104895297c.C404T; p.S135LCTWTWTHETWTWTWT
rs104895304c.T803C; p.I268TTCWTWTWTWTHETWT
rs104895358c.G1006A; p.G336SGAWTWTWTWTWTHOM
rs28934897c.G1129A; p.V377IGAHOMHOMHETHETHETWT
  • For each mutation, the following are shown: the respective identifier (dbSNP), the nucleotide substitution and, if present, the amino acid change (Change), the reference sequence (Ref) and the one observed (Obs). For each of the six patients (P1, P2, P3, P3, P4, P5, P6), the mutation is identified as wild-type (WT), heterozygous (HET) or homozygous (HOM).

  • MVK, mevalonate kinase.