Table 2 GALT mutations in the Brazilian patients with galactosemia
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 |