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Table 2 H Syndrome SLC29A3 reported mutations

From: Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene

Nucleotide change Localization Amino acid change Family origin Reference
c.1088G > A Exon 6 p.Arg363Gln Tunisia Melki et al.
Tunisia Jaouadi et al.
Spanish/Morocco Molho et al.
c.1087C > T Exon 6 p.Arg363Trp Mexico Bloom et al.
ND Molho et al.
c.401G > A Exon 4 p.Arg134His Egypt Al-Haggar et al.
c.610 + 1G > A Intron 4 p NA ND Bloom et al.
c.307-308delTT Exon 3 p.Phe103fs Iran Noavar et al.
c.625G > A Exon 5 p.Gly208Arg Japan Fujita et al.
c.1309G > A Exon 6 p.Gly437Arg Israel Molho et al.
India Priya et al.
ND Ramot et al.
Israel Spiegel et al.
Egypt El-Bassyouni
c.552C > G Exon 4 p.Ser184Arg Japan Ramot et al.
IVS1 + 2T > G Intron 1 p NA Syria Farooq et al.
c.971C > T Exon6 p.Pro324Leu Tunisia Jaouadi et al.
Morocco Molho et al.
c.42delC Exon2 p.S15Pfs*86 Tunisia Jaouadi et al.
c.243delA/c.300 + 1G > C Exon 2 p.K81Nfs/p.N101LfsX34 Morocco Bakhchane et al.
c.1279G > A Exon 6 p.Gly427Ser Bulgaria Molho et al.
Egypt Al-Haggar et al.
Israel Spiegel et al.
c.400C > T Exon 4 p.Arg134Cys India Mruthyunjaya et al.
c.1045delC Exon 6 p.Leu349Serfs ND Molho et al.
c.933T > A Exon 6 p.C310* Turkey Mutlu et al.
c.347T > G/c.610 + 1G > C Exon3/Intron 4 p.Met116Arg/p NA ND Bloom et al.
c.1269_1270delinsA Exon 6 p.Leu424Serfs*29 China Liu et al.
c.1339G > A Exon 6 p.Glu447Lys Turkey Vural et al.
c.300 + 2T > G Intron 2 p NA Syria Farooq et al.
c.300 + 1G > A Intron 2 p NA ND Morgan et al.
c.155G > A/c.1309G > A Exon3/Exon6 p NA/p.Gly437Arg Iran Darvish et al.
  1. p.NA: Non-applicable protein, ND: not determined