From: Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities
Ind | Sex | Molecular Effect | Amino acid substitution | GPX4 variant |
---|---|---|---|---|
18 | M | NS | p.(Tyr127*) | Not available for affected child |
 |  |  |  | GPX4(NM_001039848.1):c.381C > A both parents |
19 | F | FS | Exon 4 splice error | GPX4(NM_001039848.1):c.587 + 5G > A; |
 |  | PT | Exon 5 skip | GPX4(NM_001039848.1):c.588-8_588-4del |
20 | M | FS | p.(His52fs*1) | GPX4(NM_002085.4):c.153_160del |
21 | F | FS | p.(His52fs*1) | GPX4(NM_002085.4):c.153_160del |
22 | M | NS | (p.(Gly148Argfs*?)); | GPX4(NM_001039848.1):c.441dup maternal; |
 |  |  | (p.(Pro138Arg)) | GPX4(NM_001039848.1):c.413C > G paternal |
23 | F | MS | p.Arg152His | GPX4(NM_001039848.2):c.647G > A;homozygous |
24 | M | MS | p.Arg152His | GPX4(NM_001039848.2):c.647G > A, homozygous |
25 | M | MS | p.Arg152His | GPX4(NM_001039848.2):c.647G > A, homozygous |