Table 1 GALT variants detected in the Polish cohort
From: The genetic basis of classical galactosaemia in Polish patients
Mutation | Alleles | HGMD | ||
|---|---|---|---|---|
Coding sequence | Protein level | No | Frequency (%) | |
c.563A>G | p.Gln188Arg | 172 | 49.4 | CM910169 |
c.855G>T | p.Lys285Asn | 112 | 32.2 | CM920296 |
c.329-2A>C | NA | 11 | 3.2 | CS951420 |
c.997C>T | p.Arg333Trp | 6 | 1.7 | CM910170 |
c.626A>C | p.Tyr209Ser | 6 | 1.7 | CM990655 |
c.958G>A | p.Ala320Thr | 4 | 1.1 | CM950557 |
c.152G>T | p.Arg51Leu | 4 | 1.1 | CM990628 |
c.425T>A | p.Met142Lys | 4 | 1.1 | CM910168 |
c.-119_-116delGTCA;c.940A>G | NA;p.Asn314Asp | 3 | 0.9 | CD991729 + CM940804 |
c.812A>G | p.Glu271Gly | 2 | 0.6 | CM074209 |
c.1014C>G | p.Gly338Gly | 2 | 0.6 | CS129678 |
c.584T>C | p.Leu195Pro | 2 | 0.6 | CM920295 |
c.1138T>C | p.Ter380Arg | 2 | 0.6 | CM990679 |
c.499T>C | p.Trp167Arg | 2 | 0.6 | CM990646 |
c.626A>G | p.Tyr209Cys | 2 | 0.6 | CM990656 |
c.507+2T>C | unknown | 1 | 0.3 | CS991403 |
c.83-11>G | unknown | 1 | 0.3 | CS129673 |
c.611G>C | p.Arg204Pro | 1 | 0.3 | CM990653 |
c.982C>T | p.Arg328Cys | 1 | 0.3 | CM110770 |
c.152G>A | p.Arg51Gln | 1 | 0.3 | CM051924 |
c.490C>T | p.Gln164Ter | 1 | 0.3 | CM990645 |
c.505C>A | p.Gln169Lys | 1 | 0.3 | CM993449 |
c.1054G>C | p.Glu352Gln | 1 | 0.3 | novel |
c.392T>G | p.Phe131Cys | 1 | 0.3 | CM074218 |
c.285T>G | p.Phe95Leu | 1 | 0.3 | CM994053 |
c.748C>A | p.Pro250Thr | 1 | 0.3 | CM074211 |
c.260C>T | p.Pro87Leu | 1 | 0.3 | novel |
c.404C>T | p.Ser135Leu | 1 | 0.3 | CM950546 |
c.134C>T | p.Ser45Leu | 1 | 0.3 | CM990627 |