Table 3 Comparison of OCA patients bearing the p.R305W variant
IDs | Gender | Ethnic background | TYR | OCA2 | ||
|---|---|---|---|---|---|---|
Allele 1 | Allele 2 | Allele 1 | Allele2 | |||
NE27 | Male | American Indian or Alaska Native, Black or African American, White | c.1103C>T (p.Ala368Val) | c.913C>T (p.Arg305Trp) VUS 2.7 kb Exon7 deletion | ||
NE12 | Female | White | c.1465A>G (p.Asn489Asp) c.2310T>G (p.Tyr770*) Phase unknown: c.913C>T (p.Arg305Trp) VUS | |||
NE21 | Male | White | c.1118C>A (p.Thr373Lys) | c.913C>T p.Arg305Trp) VUS | ||
NE22 | Female | White | c.242C>T (p.Pro81Leu) | c.913C>T (p.Arg305Trp) VUS | ||
NE30 | Male | Asian | c.229_230insAGG (p.Arg77delinsGlnGly) | c.913C>T (p.Arg305Trp) VUS | ||