Table 1. Variants in KANSL1 (NM_001193466.1) and their predicted effects at the protein level.
| Case | Genomic position | Mutation (nt) | Change (aa) | Exon | Mutation type | De novo |
|---|---|---|---|---|---|---|
| #34 | chr17:g.44248594G>A | c.916C>T | p.(Gln306*) | Exon 2 | Nonsense | Yes |
| #35 | chr17:g.44144914C>T | c.1652+1G>A | p.(?) | Intron 5 | Splice site | Yes |
| #36 | chr17:g.44248524_44248525del | c.985_986del | p.(Leu329Glufs*22) | Exon 2 | Frameshift | Yes |
| #37 | chr17:g.44128049_44128052del | c.1867_1870del | p.(Ile623Alafs*6) | Exon 7 | Frameshift | NA |
| #38 | chr17:g.44248970_44248979del | c.531_540del | p.(Gly179Leufs*20) | Exon 2 | Frameshift | Yes |
| #39 | chr17:g.44110559C>G | c.2725-1G>C | p.(?) | Intron 12 | Splice site | Yes |
| #40 | chr17:g.44144921_44144928del | c.1639_1646del | p.(Gly547*) | Exon 5 | Frameshift | NA |
| #41 | chr17:g.44248938del | c.572del | p.(Gly191Valfs*11) | Exon 2 | Frameshift | Yes |
| #42 | chr17:g.44110791_44110794dup | c.2699_2702dup | p.(Ser901Argfs*4) | Exon 12 | Frameshift | Yes |
| #43 | chr17:g.44144914C>T | c.1652+1G>A | p.(?) | Intron 5 | Splice site | Yes |
| #44 | chr17:g.44109035del | c.3125del | p.(Leu1042Argfs*71) | Exon 15 | Frameshift | Yes |
| #45 | chr17:g.44248601_44248602del | c.908_909del | p.(Lys303Thrfs*11) | Exon 2 | Frameshift | NA |
Abbreviations: aa, amino acid; nt, nucleotide; NA, DNA of parent(s) not available. Summary of all sequence variants found in KANSL1 in the individuals reported herein. Genomic, cDNA, and protein positions are given as well as the affected exons. All genomic positions are based on the GRCh37/hg19 sequence; KANSL1 genomic reference sequence NG_032784.1; and transcript reference sequence NM_001193466.1.