Table 1.
DYRK1A variant information for UW-SNV mutation patients
| Patient | Position | Type of mutation | cDNA | Protein | Inheritance |
|---|---|---|---|---|---|
| 1 | 21:38865466 | Splice site | c.1098+1G>A | – | De novo |
| 2 | 21:38845116 | Frameshift | c.143_144delTA | p.Ile48Lysfs*2 | De novo |
| 3 | 21:38877833 | Frameshift | c.1491delC | p.Ala498Profs*61 | De novo |
| 4 | 21:38868533 | Frameshift | c.1217_1220delAGAA | p.Lys406Argfs*44 | De novo |
| 5 | 21:38862575 | Nonsense | c.763C>T | p.Arg255* | De novo |
| 6 | 21:38877746 | Frameshift | c.1401delAinsGG | p.Ile468Aspfs*17 | De novo |
| 7 | 21:38853064 | Frameshift | c.452dupA | p.Asn151Lysfs*12 | Not maternal |
| 8 | 21:38862695 | Missense | c.883C>T | p.Leu295Phe | De novo |
| 9 | 21:38862463 | Splice site | c.665-8_665-3delTCTTTC | – | De novo |
| 10 | 21:38877590 | Frameshift | c.1248delA | p.Lys416Asnfs*35 | De novo |
Variant information for UW-SNV patients using NCBI reference sequence for DYRK1A isoform NM_101395.2, GRCh37 (hg19) build version (Ensembl id: ENST00000338785). This isoform was selected because it was the highest expressing isoform in human tissues in the GTEx database [https://gtexportal.org/home/gene/DYRK1A]) [53]. Patients 1–3 were first identified through the Simons Simplex Collection, patients 4–10 underwent clinical genetic testing prior to research participation. cDNA and protein (NP_567824.1) annotation follows HGVS guidelines