Table 1 α -Galactosidase A mutations causing Fabry disease
Location | Allele Designation cDNA-Baseda | Genomic Nucleotide Changeb | Phenotype |
|---|---|---|---|
Missense | |||
EX 1 | M1T | g1181T → G | Classic |
EX 1 | A31V | g1271C → T | Classic |
EX 1 | H46R | g1316A → G | Classic |
EX 2 | Y86C | g5156A → G | Classic |
EX 2 | L89P | g5165T → C | Classic |
EX 2 | I91T | g5171T → C | Cardiac variant |
EX 2 | D92Y | g5173G → A | Classic |
EX 2 | C94Y | g5180G → A | Classic |
EX 2 | A97V | g5189C → T | Mild |
EX 2 | R100T | g5198G → A | Classic |
EX 2 | F113L | g5236T → C | Cardiac variant |
EX 3 | Y134S | g7300A → C | Classic |
EX 3 | G138R | g7311G → A | Classic |
EX 3 | A143T | g7326G → A | Unknownc |
EX 3 | S148R | g7343T → G | Classic |
EX 3 | G163V | g7387G → T | Classic |
EX 3 | D170V | g7408A → T | Classic |
EX 4 | C202Y | g8378G → A | Classic |
EX 5 | Y216D | g10137T → G | Classic |
EX 5 | N263S | g10279A → G | Classic |
EX 6 | W287C | g10568G → T | Classic |
EX 6 | N298S | g10601A → G | Classic |
Nonsense | |||
EX 7 | Q386X | g11134C → T | Classic |
EX 7 | W399X | g11174G → A | Classic |
Splicing | |||
Intron 4 | IVS4 + 2T → C | g8414T → C | Classic |
Rearrangements | |||
EX 2 | 304del1 | 5204delC | Classic |
EX 4 | 613del9 | 8386del9 | Classic |
EX 5 | 777del1 | 10268delA | Classic |
EX 7 | 1057del2 | 11035delAT | Classic |
EX 7 | 1074del2 | 11053delGA | Classic |
EX 7 | 1077del1 | 11055delT | Classic |
EX 7 | 1212del3 | R404del | Classic |
EX 7 | 1094ins1 | 11072insC | Classic |
Complex | |||
EX 1 | g1312TGCAC → GCTCG | Classic | |
EX 2 | g5115GGCAGAGCTCATG → GCAGAGCCA | Classic |