TableĀ 2

Genes and nucleotide variations (amino acid changes are reported in brackets, if present) found in homozygosis or heterozygosis in the six MKD patients analysed in our study

GenesChanges (nucleotide and amino acid)
MUC4 NM_018406.6 (3q29)c.*406C>T; c.G7702T (p.A2568S); c.A6447C (p.E2149D); c.A6409G (p.T2137A); c.A6344T (p.D2115V); c.A6265G (p.I2089V); c.A6206G (p.N2069S); c.C2834G (p.T945S)
KRTAP4-8 NM_031960.2 (17q21.2)c.*468T>C; c.*442T>C; c.*258T>A; c.*198C>A; c.*94T>G; c.*30A>G, c.G502A (p.A168T); c.C451G (p.L151V); c.1dupA (p.M1fs)
IL23R NM_144701.2 (1p31.3)c.T929C (p.L310P)
ADAM17 NM_003183.4 (2p25.1)c.*290A>G; c.*75G>A; c.*61delA; c.-172T>C
RET NM_020975.4 (10q11.2)c.*600T>A; c.*1506G>A
PTEN NM_001126049.1(10q23.3)c.-1617delA; c.-1657C>G
IL10RA NM_001558.3 (11q23.3)c.A1051G (p.R351G)
GUCY2C NM_004963.3 (12p12.3)c.T843G (p.F281L)
PTPN2 NM_001207013.1(18p11.21)c.*265G>A
HNF4A NM_000457.4 (20q13.12)c.*906A>C
  • RefSeq mRNA (NM_.) and the chromosome localisation of each gene are reported.

  • MKD, mevalonate kinase deficiency.