Table 7 Mutation of gene in 13 children with AS
ID | Gene | Location of chr | Exon | Nucleotide Change | Amino acid Change | Conservation of the protein | Source of variation | ACMG | Mutation type | Inheritance | Type |
|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | COL4A5 | chrX:107858210 | exon30 | c.[2465G>A] | p.(Gly822Glu) | conserved | Mo(het) | VUS | Missense | XL | MS |
P2 | COL4A5 | chrX:107866028 | exon33 | c.[2890G>T] | p.(Gly964X) | conserved | Mo(het) | Likely pathogenic | Nonsense | XL | S |
P3 | COL4A4 | chr2:227875130 | exon46 | c.[4421C>T] | p.(Thr1474Met) | conserved | Mo(het) | VUS | Missense | AR | / |
COL4A4 | chr2:227896933–227,896,934 | exon39 | c.[3636_3637del] | p.(Arg1212fs) | conserved | Fa(het) | Likely pathogenic | Frame shift | AR | / | |
P4 | COL4A5 | chrX:107865935 | exon33 | c.[2797C>T] | p.(Leu933Phe) | conserved | Mo(het) | VUS | Missense | XL | MS |
P6 | COL4A5 | chrX:107867547 | exon34 | c.[2999G>T] | p.(Gly1000Val) | conserved | Mo(het) | Pathogenic | Missense | XL | MS |
P8 | COL4A3 | chr2:228159760 | exon40 | c.[3499G>A] | p.(Gly1167Arg) | conserved | Mo(het) | Pathogenic(PS1 + PM1 + PM2 + PM + PP1) | Missense | AD | / |
P9 | COL4A5 | chrX:107842091 | exon25 | c.[1939G>A] | p.(Gly647Arg) | conserved | Mo(het) | Likely pathogenic | Missense | XL | MS |
P10 | COL4A5 | chrX:107824232 | exon16 | c.[911G>A] | p.(Gly304Glu) | conserved | Fa(hemi) | Likely pathogenic (PM1 + PM2 + PM + PP1) | Missense | XL | M |
P11 | COL4A5 | chrX:107842014 | exon25 | c.[1862G>A] | p.(Gly621Ala) | conserved | Mo(het) | Likely pathogenic (PS + PM1 + PM5) | Missense | XL | MS |
P12 | COL4A5 | chrX:107829932 | exon19 | c.[1120G > T] | p.(Gly374X) | conserved | indeterminacy | Likely pathogenic | Nonsense | XL | S |
COL4A5 | chrX-107,829,930 | exon19 | c.[1118G > A] | p.(Arg373Gln) | conserved | indeterminacy | VUS | Missense | XL | MS | |
P13 | COL4A3 | chr2–228,175,529 | exon51 | c.[4793 T > G] | p.(Leu1598Arg) | conserved | Mo(het) | Likely pathogenic | Missense | A | / |
COL4A5 | chrX:107815050 | exon8 | c.[448G > C] | p.(Gly150Arg) | conserved | Mo(het) | VUS | Missense | XL | M | |
P14 | COL4A5 | chrX:107909779 | exon39 | c.[3508G > A] | p.(Gly1170Ser) | conserved | Mo(het) | Likely pathogenic (PS1 + PM2 + PP3 + PP1) | Missense | XL | MS |
P15 | COL4A5 | chrX:107815050 | exon8 | c.[448G > T] | p.(Gly150Trp) | conserved | indeterminacy | Likely pathogenic (PS2 + PM2 + PP3) | Missense | XL | M |