Table III.
Additional novel GAA mutant alleles identified in this study
| Location | Nucleotide change | Amino acid change | Ethnicitya | Number of allelesb |
|---|---|---|---|---|
| Missensec | ||||
| Exon 7 | c.1118T>G | p.Leu373Arg | 1 | |
| Exon 10 | c.1466A>G | p.Asp489Gly | 1 | |
| Exon 12 | c.1719C>A | p.Asn573Lys | Mexico (2) | 2 |
| Exon 12 | c.1726G>C | p.Gly576Arg | 1 | |
| Exon 13 | c.1802C>T | p.Ser601Leu | Hispanic (1) | 1 |
| Exon 13 | c.1832G>A | p.Gly611Asp | 1 | |
| Exon 15 | c.2105G>T | p.Arg702Leu | African American (1) | 1 |
| Exon 17 | c.2456 G>C | p.Arg819Pro | Middle Eastern (4) | 4 |
| Exon18 | c.2528T>C | p.Leu843Pro | 1 | |
| Exon 19 | c.2783A>G | p.Tyr928Cys | Indian (2) | 2 |
| Frame shift | ||||
| Exon 8 | c.1293_1312del20 | p.Gln433AspfsX66 | 1 | |
| Exon 9 | c.1356delC | p.Ser454AlafsX23 | Asian (1) | 1 |
| Exon 13 | c.1848dupC | p.Val617Argfs19X | 1 | |
| Exon 14 | c.1936_1937insGCCGACG | p.Val646GlyfsX93 | Indian (1) | 1 |
| Exon 17 | c.2408_2426del19 | p.Gln803ProfsX39 | Caucasian (1) | 1 |
| Splice site | ||||
| Intron 9 | c.1437+1G>A | Hispanic (2) | 2 | |
| Intron 10 | c.1551+1G>T | African American (1) | 1 | |
| Intron 12 | c.1754+1G>A | African American (1) | 1 | |
| Intron 15 | c.2189+3G>C | Indian (1) | 1 | |
| Intron 17 | c.2481+2T>C | 1 | ||
| Deletion | ||||
| Exon 2-3 | Deletion of at least exon 2 and proximal exon 3d | Asian (1) | 1 | |
| Exon 2 | c.460_465del6 | p.Arg154_Thr155del | 1 | |
| Predicted benign | ||||
| Exon 5 | c.917C>T | p.Ser306Leu | African American (1) | 1 |
a
Where available, ethnicity of the patient(s) in whom a specific allele was found is stated. The number in parentheses gives the number of alleles found in patients of that ethnicity.
b
Number of alleles identified in this study.
c
All missense mutations listed were predicted to be “probably damaging” by the Polyphen-2 program, except for p.Ser306Leu, which was predicted to benign.
d
The end points of this deletion are not defined.