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Table 2 GALT mutations in the Brazilian patients with galactosemia

From: Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

Region nucleotide change Mutation type Amino Acid Damage Prediction by SIFT Damage Prediction by Polyphen-2 Classification@ Relative allele frequency References
5′UTR -119_-116delCAGT* deletion --- --- --- Benign (Duarte 2) 0,08 Berry GT et al., 2001 [44]
Exon 1 c.2 T > C missense M1T DAMAGING TOLERATED Pathogenic 0,04 novel
Exon 2 c.97C > A missense R33S DAMAGING DAMAGING Pathogenic 0,01 novel
Exon 2 c.98G > A missense R33H DAMAGING DAMAGING Pathogenic 0,01 Gort L et al., 2006 [45]
Exon 2 c.217C > T missense P73S TOLERATED DAMAGING Predicted pathogenicity 0,01 novel
Exon 3 c.287_289delACA deletion N97del --- --- Pathogenic 0,01 novel
Intron 3 c.328 + 1G > A splicing efect# --- --- --- Predicted pathogenicity 0,01 novel
Intron 4 c.377 + 4A > C splicing efect# --- --- --- Predicted pathogenicity 0,03 novel
Exon 5 c.394C > T missense H132Y DAMAGING DAMAGING Pathogenic 0,01 Elsas LJ et al., 1998 [46]
Exon 5 c.404C > T missense S135L DAMAGING DAMAGING Pathogenic 0,12 Reichardt JK et al., 1992 [47]
Exon 5 c.506A > C missense Q169P DAMAGING DAMAGING Pathogenic 0,01 novel
Intron 5 c.508-24G > A* polymorphism --- --- --- Benign 0,08 Kozak L et al., 2000 [48]
Intron 5 c.507 + 62G > A* polymorphism --- --- --- Benign 0,08 Kozak L et al., 2000 [48]
Exon 6 c.510C > A silent I170I TOLERATED TOLERATED Translationally silent 0,01 Item C et al., 2002 [49]
Exon 6 c.512 T > C missense F171S DAMAGING DAMAGING Pathogenic 0,01 Reichardt JK et al., 1992 [47]
Exon 6 c.524G > A missense G175D DAMAGING DAMAGING Pathogenic 0,03 Gort L et al, 2006 [45]
Exon 6 c.563A > G missense Q188R DAMAGING DAMAGING Pathogenic 0,22 Reichardt JK et al., 1992 [47]
Exon 7 c.610C > T nonsense R204X --- --- Pathogenic 0,03 Tyfield L et al., 1999 [35]
Exon 8 c.692G > A missense R231H DAMAGING DAMAGING Pathogenic 0,01 Ashino J et al., 1995 [41]
Exon 9 c.824delT deletion L275Qfs*5 --- --- Pathogenic 0,01 Elsas LJ et al., 1998 [46]
Exon 9 c.855G > T missense K285N DAMAGING DAMAGING Pathogenic 0,03 Leslie ND et al., 1992 [33]
Exon 9 c.876G > A silent T292T TOLERATED TOLERATED Translationally silent 0,03 Calderon FR et al., 2007 [17]
Exon 9 c.879C > T silent S293S TOLERATED TOLERATED Translationally silent 0,01 Calderon FR et al., 2007 [17]
Exon 10 c.940A > G* missense N314D TOLERATED TOLERATED Benign (Duarte 1 and 2) 0,08 Reichardt JK et al., 1991 [50]
Exon 10 c.945 T > C silent H315H TOLERATED TOLERATED Translationally silent 0,03 Lai K et al., 1996 [21]
Exon 10 c.974C > T missense P325L DAMAGING DAMAGING Pathogenic 0,01 Greber-Platzer S et al., 199 [51]7
  1. *these mutations are found in cis in Duarte 2 allele
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  3. @
  4. New mutations are indicated in bold