Table 1.
Summary of Rare AP4E1 Variants in Population-Matched Stuttering Individuals
| cDNA Change | Amino Acid Change | SNP ID |
Stuttering Individuals and Families (n = 936)a |
Population-Matched Control Individuals (n = 558) |
No. of Individuals in Population Databases |
PolyPhen-2 Score | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| CAMST01 (1 Family) | STCR ( n = 92) | PKST (60 Families) | PKSTR (n = 72) | NA + NIH (n = 711) | 1000 Genomes | NHLBI ESP6400 | |||||
| c.−2_1−18(1_3) | non-coding | unknown | − | − | PKST9 [3] | − | NA276, NA363 | − | − | − | − |
| c.−4G>A | non-coding | unknown | − | STCR132, STCR201 | − | − | − | − | − | 2 | − |
| c.−7G>A | non-coding | unknown | − | − | − | − | Na0672 | − | − | − | − |
| c.286T>G | p.Phe96Val | unknown | − | − | PKST27 [1] | − | − | − | − | − | 1.000 |
| c.542+3A>G | non-coding | unknown | − | − | − | − | Na0689 | − | − | − | − |
| c.613C>A | p.His205Asn | rs148499164 | − | − | − | − | NA182 | − | − | 5 | 0.924 |
| c.833delT | p.Leu278∗ | unknown | − | − | − | − | NA272 | − | − | − | − |
| c.741dup | p.Val248Cysfs∗41 | unknown | − | − | − | − | NA275 | − | − | − | − |
| c.932A>G | p.Asn311Ser | rs536656846 | − | − | − | − | Na0166 | − | − | − | 0.910 |
| c.977C>T | p.Ser326Phe | rs372479885 | − | − | − | − | Na0507 | − | − | 1 | 0.897 |
| c.1151A>G | p.His384Arg | unknown | − | − | − | − | NIH25 | − | − | − | 1.000 |
| c.1276A>C | p.Ile426Leu | rs148817957 | − | − | − | − | NA22 | ND05461 | 3 | 11 | 0.924 |
| c.1424C>T | p.Ala475Val | rs200678853 | − | − | PKST95 [2] | − | − | − | − | − | 1.000 |
| c.1549G>A | p.Val517Ile | unknown | 1E [12] | STCR102, STCR199 | − | − | − | − | − | − | 1.000 |
| c.1624A>G | p.Met542Val | unknown | − | − | PKST26 [1], PKST81 [3] | − | NA136 | − | − | − | 0.000 |
| c.1851+1_4dupGTAA | non-coding | unknown | − | − | − | PKSTR25 | − | − | − | − | − |
| c.1867T>C | p.Ser623Pro | unknown | − | − | − | − | NA41 | ND08851 | – | – | 1.000 |
| c.2383delA | p.Arg795Glyfs∗19 | unknown | − | − | − | − | NA173 | − | − | − | − |
| c.2401G>A | p.Glu801Lys | unknown | 1E [12] | STCR102, STCR199 | − | − | − | − | − | − | 0.006 |
| c.2570C>G | p.Ser857∗ | unknown | − | − | PKST44 [2] | − | − | − | − | − | − |
| c.2713T>C | p.Ser905Pro | unknown | − | − | − | − | NA217 | − | − | − | 0.013 |
| c.2932C>T | p.Pro978Ser | rs141278078 | − | − | PKST87 [2] | − | − | − | − | 6 | 0.001 |
| c.3238A>G | p.Ile1080Val | unknown | − | − | PKST69 [1] | − | − | − | − | − | 0.000 |
| c.3266T>G | p.Leu1089Arg | unknown | − | − | PKST32 [1] | PKSTR59 | − | − | − | − | 0.990 |
| c.3314G>A | p.Arg1105Gln | rs139640763 | 1E [1] | − | − | − | − | − | 2 | 1 | 1.000 |
Abbreviations are as follows: CAMST01, Cameroonian family; STCR, Cameroonian unrelated stuttering individuals; PKST, Pakistani families with stuttering individuals; PKSTR, Pakistani unrelated stuttering individuals; NA, unrelated North American stuttering individuals; Na, single unrelated stuttering individuals from North American families; −, variant has zero allele frequency.
a
Brackets indicate the number of affected individuals within the family.