Table 2.
Genetic localization of variants
| Region | Type | Location | Variant | a.o. (years) | d.d. (months) |
|---|---|---|---|---|---|
| coding | AA deletion Mean a.o.: 51.9, n = 7 Mean d.d.: 63.5, n = 4 | exon 1 | I19del | 80.0, n = 1 | na |
| exon 2 | G28delGP | 51.0, n = 1 | 48.0, n = 1 | ||
| exon 4 | S106delSL | 52.0, n = 1 | 31.0, n = 1 | ||
| exon 5 | G131delGNEE, E133del | 45.0, n = 4 | 87.5, n = 2 | ||
| AA point mutation Mean a.o.: 48.4, n = 1355 Mean d.d.: 57.1, n = 587 | exon 1 | K4E, A5V, A5S, A5T, A5F, V6L, V6M, C7F, C7W, C7S, C7G, L9Q, L9V, G11V, G11A, G11R, D12Y, G13R, V15M, V15G, G17A, G17H, G17C, G17S, N20S, F21V, F21C, F21L, E22G, E22K, Q23L, Q23R | 48.3, n = 319 | 25.8, n = 169 | |
| exon 2 | V32A, W33G, G38V, G38R, G38C, L39V, L39R, E41G, G42D, G42S, H44R, F46C, F46S, H47R, V48A, V48F, H49R, H49E, E50K | 46.5, n = 173 | 69.4, n = 66 | ||
| exon 3 | C58Y, G62R, N66T, N66S, P67S, P67R, P67A, P67T, P67L, L68P, S69P, R70G, H72Y, G73C, G73D, G73S, P75S, D77Y, D77V, R80S | 49.7, n = 53 | 74.3, n = 26 | ||
| exon 4 | H81Y, H81R, D84H, D84N, D84G, L85F, L85V, G86R, G86C, N87S, N87I, N87K, N87D, V88A, A90T, A90F, A90V, D91A, D91N, D93G, G94V, G94C, G94R, G94A, G94D, G94S, V95G, A96T, I100V, E101G, E101K, D102N, D102G, D102E, D102H, I105F, S106L, L107V, L107F, D110Y, C112Y, I113T, I113M, I113F, I114T, I114F, G115A, R116S, R116G, L118V, V119L, V119M | 48.6, n = 610 | 71.9, n = 245 | ||
| exon 5 | V120L, V120F, H121Q, H121R, E122G, D125V, D125G, D126N, L127S, G128V, G128R, E134V, E134*, E134G, E134K, S135N, S135T, T138R, T138A, G139V, G139E, N140D, N140K, N140H, G142A, G142E, L145S, L145F, A146T, C147R, G148D, G148N, G148S, G148C, V149G, I150T, I150V, I150M, I152T, I152S, A153P, Q154R | 49.2, n = 200 | 62.2, n = 81 | ||
| Double AA point mutation Mean a.o.: 45.5, n = 4 Mean d.d.: 222.0, n = 2 | exon 3&4 | D91A&I114T, D91A&D97N | 38.7, n = 3 | 222.0, n = 2 | |
| exon 4 | P67S&D91A | 66.0, n = 1 | na | ||
| Silent mutation Mean a.o.: 67.3, n = 3 Mean d.d.: 62.5, n = 2 | exon 3 | S60S | 77.0, n = 1 | 12.0, n = 1 | |
| exon 5 | A141A | 62.5, n = 2 | 113, n = 1 | ||
| Truncating mutation Mean a.o.: 47.1, n = 37 Mean d.d.: 31.1, n = 21 | exon 2 | W33* | 41.0, n = 1 | na | |
| exon 4 | K92Rfs*9, S108Lfs*15 | 66.0, n = 3 | 12.0, n = 1 | ||
| exon 5 | D125Tfs*24, L127Gfs*6, L127*, G128Gfs*7, K129Kfs*4, G131Kfs*2, N132Qfs*5, E133*, E134*, K137*, N140*, G142*, L145Ffs*3 | 45.6, n = 33 | 32.1, n = 20 | ||
| non-coding | NC deletion Mean a.o.: 64.0, n = 2 Mean d.d.: 51.0, n = 2 | intron 2 | c.169+50delAACAGTA | 64.0, n = 2 | 51.0, n = 2 |
| point mutation Mean a.o.: 53.9, n = 28 Mean d.d.: 33.8, n = 18 | 3'UTR | c.*249T>C | 46.0, n = 1 | 30.0, n = 1 | |
| 5'UTR | c.-46C>T | 42.0, n = 1 | 66.0, n = 1 | ||
| TATA | c.-109A>G | 56.0, n = 2 | 60.0, n = 1 | ||
| intron 2 | c.170-20T>C, c.170-7T>C | 64.0, n = 2 | na | ||
| intron 3 | c.239+34A>C, c.240-3T>C, c.240-7T>G | 42.1, n = 9 | 19.8, n = 4 | ||
| intron 4 | c.358-10T>G, c.358-11A>G | 61.6, n = 13 | 34.0, n = 11 |
a.o.: age of onset (years) d.d.: disease duration (months)