Table 2. GLA genotypes.
| Nucleotide change | No. of patients | Codon change | Associated phenotype, as reported in the literature |
|---|---|---|---|
| c.157_160del_AACC | 1 | p.Asn52FsX67 a | Novel |
| c.803T>C | 1 | p.Leu268Ser | Classic phenotype [28] |
| c.679C>T | 2 | p.Arg227X a | Classic phenotype [29] |
| c.1025G>A | 1 | p.Arg342Gln | Classic phenotype [30] |
| c.400delT | 1 | p.Tyr134Met_FsX31 a | Not specified [31] |
| c.644A>G | 1 | p.Asn215Ser b | Cardiac variant phenotype [32] |
| c.950T>C | 1 | p.Ile317Thr | Classic phenotype [33] and cardiac variant phenotype [34] |
| c.802_805delTTAG | 1 | p.Leu268X a | Novel b |
| c.71G>A | 3 | p.Trp24X a | Novel |
| c.800T>G | 1 | p.Met267Arg | Classic phenotype [35] |
| c.277G>A | 1 | p.Asp93Asn | Classic phenotype [36] |
| c.982G>C | 1 | p.Gly328Arg | Classic phenotype [37] |
| c.748C>T | 1 | p.Gln250X a | Classic phenotype[38] |
| c.1042G>C | 3 | p.Ala348Pro | Classic phenotype [35] |
| c.613C>A | 1 | p.Pro205Thr | Classic phenotype [39] |
| c.101A>G | 1 | p.Asn34Ser | Classic phenotype [32] |
| c.874G>A | 4 | p.Ala292Thr | Not specified [40] |
| c.647A>G | 2 | p.Tyr216Cys | Classic phenotype [41] |
| c.1095delT | 1 | p.Tyr365fsX a | Classic phenotype [42] |
| c.1117G>C | 1 | p.Gly373Arg | Novel |
| c.658C>T | 1 | p.Arg220X a | Classic phenotype [43] |
| c.1235_6delCT | 1 | p.Thr412fs c | Classic phenotype [44–46] |
aSignifies truncating (nonsense) mutation.
bThis mutation could be identical to c.803delTAGT, previously described by Shabbeer et al. [33]
cSignifies frameshift mutation that extends protein sequence beyond natural stop codon.