From: Delineating the genetic heterogeneity of OCA in Hungarian patients
Patient | Mutation 1 | Mutation 2 | Polymorphisms | Molecular diagnosis |
---|---|---|---|---|
1 | TYR gene: c.74dupT p.Ser26Leufs*2 (hetero) | TYR gene: c.346C>T p.Arg116* (hetero) | – | OCA1 |
2 | TYR gene: c.1037−7T>A (homo) | – | SLC45A2 gene: c.1122G>C p.Leu374Phe (homo) Global MAF: 0.2750 Caucasian MAF: 0.0616 OCA2 gene: c.913C>T p.Arg305Trp (hetero) Global MAF: 0.0790 Caucasian MAF: 0.0650 | OCA1 |
3 | TYR gene: c.1037−7T>A (homo) | – | SLC45A2 gene: c.1122G>C p.Leu374Phe (homo) Global MAF: 0.2750 Caucasian MAF: 0.0616 | OCA1 |
4 | TYR gene: c.1037−7T>A (homo) | – | SLC45A2 gene: c.1122G>C p.Leu374Phe (homo) Global MAF: 0.2750 Caucasian MAF: 0.0616 | OCA1 |
5 | TYR gene: c.1204C>T p.Arg402* (hetero) | – | TYR gene: c.575C>A p.Ser192Tyr (homo) Global MAF: 0.1234 Caucasian MAF: 0.3718 SLC45A2 gene: c.1122G>C p.Leu374Phe (homo) Global MAF: 0.2750 Caucasian MAF: 0.0616 | OCA1 |
6 | TYR gene: c.650G>A p.Arg217Gln (hetero) | – | TYR gene: c.1205G>A p.Arg402Gln (hetero) Global MAF: 0.0813 Caucasian MAF: 0.2525 SLC45A2 gene: c.1122G>C p.Leu374Phe (homo) Global MAF: 0.2750 Caucasian MAF: 0.0616 | OCA1 |
7 | TYR gene: c.650G>A p.Arg217Gln (hetero) | – | TYR gene: c.1205G>A p.Arg402Gln (hetero) Global MAF: 0.0813 Caucasian MAF: 0.2525 SLC45A2 gene: c.1122G>C p.Leu374Phe (homo) Global MAF: 0.2750 Caucasian MAF: 0.0616 | OCA1 |
8 | TYR gene: c.650G>A p.Arg217Gln (hetero) | – | – | OCA1 |
9 | SLC45A2 gene: c.1226G>A p.Gly409Asp (hetero) | SLC45A2 gene: c.1459C>T p.Gln487* (hetero) | TYR gene: c.575C>A p.Ser192Tyr (homo) Global MAF: 0.1234 Caucasian MAF: 0.3718 TYR gene: c.1205G>A p.Arg402Gln (hetero) Global MAF: 0.0813 Caucasian MAF: 0.2525 | OCA4 |
10 | SLC45A2 gene: c.1226G>A p.Gly409Asp (hetero) | SLC45A2 gene: c.1459C>T p.Gln487* (hetero) | TYR gene: c.575C>A p.Ser192Tyr (hetero) Global MAF: 0.1234 Caucasian MAF: 0.3718 | OCA4 |
11 | TYR gene: c.1366+4A>G (hetero) | SLC45A2 gene: c.1099G>A p.Val367Ile (hetero) | TYR gene: c.575C>A p.Ser192Tyr (hetero) Global MAF: 0.1234 Caucasian MAF: 0.3718 SLC45A2 gene: c.1122G>C p.Leu374Phe (homo) Global MAF: 0.2750 Caucasian MAF: 0.0616 | OCA1/ OCA4 |
12 | – | – | TYR gene: c.575C>A p.Ser192Tyr (homo) Global MAF: 0.1234 Caucasian MAF: 0.3718 TYR gene: c.1205G>A p.Arg402Gln (hetero) Global MAF: 0.0813 Caucasian MAF: 0.2525 SLC45A2 gene: c.1122G>C p.Leu374Phe (homo) Global MAF: 0.2750 Caucasian MAF: 0.0616 | Unknown |
13 | – | – | SLC45A2 gene: c.1122G>C p.Leu374Phe (homo) Global MAF: 0.2750 Caucasian MAF: 0.0616 | Unknown |