TABLE 2.
Summary of MAST4 de novo missense variants identified in neurodevelopmental disorders.
| Index | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 |
| Sample ID | 95,715 | Case 1 | DDD13k.08536 | DDD13k.00269 | Case 2 | Case 3 | 18,847 | 66,810 | Case 4 |
| gDNA change (chr5,hg19) | g.66437967A > G | g.66438324T > C | g.66440524C > T | g.66459419C > T | g.66459419C > T | g.66459419C > T | g.66460439C > T | g.66460439C > T | g.66462662C > G |
| Function | Missense | Missense | Stop gain | Missense | Missense | Missense | Missense | Missense | Missense |
| Coding change | c.2519A > G | c.2693T > C | c.2758C > T | c.4412C > T | c.4412C > T | c.4412C > T | c.5432C > T | c.5432C > T | c.7655C > G |
| Protein change | p.840H > R | p.898I > T | p.920Q > X | p.1471T > I | p.1471T > I | p.1471T > I | p.1811S > F | p.1811S > F | p.2552S > W |
| SIFT | D | D | D | D | D | D | D | D | |
| Polyphen | D | D | P | P | P | D | D | D | |
| CADD | 25.5 | 22.9 | 38 | 26.3 | 26.3 | 26.3 | 27.3 | 27.3 | 23.4 |
| MutationTaster | D | D | A | D | D | D | D | D | D |
| PROVEAN | D | D | D | D | D | D | D | N | |
| M-CAP | D | D | D | D | D | D | D | D | |
| VEST4 | 0.944 | 0.715 | 0.36 | 0.719 | 0.719 | 0.719 | 0.965 | 0.965 | 0.512 |
| GERP | 5.42 | 5.78 | 5.16 | 5.4 | 5.4 | 5.4 | 5.14 | 5.14 | 5.06 |
| phyloP | 1.312 | 1.138 | 1.026 | 1.026 | 1.026 | 1.026 | 1.026 | 1.026 | 0.08 |
| ExAC | |||||||||
| 1,000 genomes | |||||||||
| gnomAD | 0.0000112 | ||||||||
| Inheritance | De novo | De novo | De novo | De novo | De novo | De novo | De novo | De novo | De novo |
| PMID | 33057194 | This study | 33057194 | 33057194 | This study | This study | 33057194 | 33057194 | This study |
| Cohort Size | 31058 | Unknown | 31058 | 31058 | Unknown | Unknown | 31058 | 31058 | Unknown |
| Primary diagnosis | DD | IS | DD | DD | IS | IS | DD | DD | IS |
Isoform: NM_001164664.1; A, disease causing automatic; DD, developmental disorder; IS, infantile spasm; P, possibly damaging; D, deleterious; N, neutral.