Table 3 List of mutations identified in ID families
From: Exome sequencing identifies novel and known mutations in families with intellectual disability
Family ID | MRID137a | MRID137b | MRID143 | MRID149 | MRID165 | MRID170 | MRID175 |
|---|---|---|---|---|---|---|---|
Gene | GNE | CCS | C5orf42 | ARX | IL1RAPL1 | METTL4 | ELFN1 |
Genomic Change (hg19) | Chr9:36246178A>G | Chr11:66367029G>C | Chr5:37138841G>A | ChrX:25023020delAAAAGAGCC | ChrX: ~ 0.2 Mb del | Chr18:2566966G>A | Chr7:1784381C>A |
Transcript ID | NM_001190383.3 | NM_005125.2 | NM_023073.4 | Â | NM_014271.4 | NM_022840.5 | NM_001128636.4 |
cDNA Change | c.466T>C | c.350G>C | c.8611C>T | c.1449-1_1456del | – | c.250C>T | c.149C>A |
Amino acid change | p.(Tyr156His) | p.(Gly117Ala) | p.(Gln2871*) | p.(Arg483Serfs*46) | Δex6 | p.(Arg84*) | p.(Pro50His) |
gnomAD Exome | 7.96E−06 | 3.19E−04 | 0 | 0 | – | 4.4E−05 | 0 |
gnomAD Genome | 0 | 3.19E−05 | 0 | 0 | – | 0 | 0 |
gnomAD (South Asian) | 6.53E−05 | 2.6E−03 | 0 | 0 | – | 2.3E−04 | 0 |
Bioinformatics tools showing damaging results | SI, LRT, MT, Fa, PR, mSVM, mLR, M-CAP |  | MT, Fa | MT | – | MT | SI, MT, PR, M-CAP, Fa, MA (M) |