Table 3.
Exons 2 and 3 SNPs frequencies
| SNP and DNA change | Previously described | Variant type genetic | Group 1 | Group 2 | p(I vs II)= | |
|---|---|---|---|---|---|---|
| (Included in the homeodomain) | Variation at protein level | (n = 100) | (n = 227) | |||
| n (%) | n (%) | |||||
| c.202G > A | rs148604152 | Missense p.G68R | 1(1.0) | 1(0.4) | 0.5188 | |
| c.225_245dup, | No | p.Glu76_Gly82dup | 1 (1.0) | 3 (1.3) | 1 | |
| c.267A > G | rs149340601 | Synonymous p.L89= | 2 (2.0) | 0 | 0.0929 | |
| c.277G > A | all | rs146311958 | Missense p.D93N | 75 (75.0) | 176 (77.5) | 0.6703 |
| Homozygote | 1 (1.0) | 2 (0.9) | 1 | |||
| c.381dupG | Yes no rs | Frameshift p.L128Afs*34 | 0 | 2 (0.9) | 0.8617 | |
| c.381C > T | No | Synonymous p.G127= | 0 | 1 (0.4) | 1 | |
| c.396C > T | rs199940228 | Synonymous p.A133= | 0 | 1 (0.4) | 1 | |
| c.411C > T | rs142963365 | Synonymous p.N137= | 0 | 1 (0.4) | 1 | |
| c.451C > T | no | Missense p.R151C | 0 | 2 (0.9) | 1 | |
| c.452G > A | all | rs142899626 | Missense p.R151H | 40 (40.0) | 98 (43.2) | 0.6281 |
| Homozygote | 0 | 1 (0.4) | 1 | |||
| c.526C > T | rs199871532 | Missense p.L176F | 10 (10.0) | 17 (7.5) | 0.5136 |