Table 2 Overview of molecular outcome and predictive effects of alleles in TYR, OCA2, TYRP1 and SLC45A2 genes.
Families | Variant | Effect on protein | Allele frequency | Polyphen-2 | Mutation Taster | SIFT | |||
|---|---|---|---|---|---|---|---|---|---|
PK | 1000 genome | NHLBI10−4 | ExAC 10−6 | ||||||
TYR | |||||||||
PKAB115 | c.164 G > C | p.(Cys55Ser) | 0/180 | 0.000 | 0 | 8.2 | Probably damaging | Disease causing | Damaging |
PKAB174 | c.223 G > T | p.(Asp75Tyr) | 0/176 | 0 | 0 | 0 | Probably damaging | Disease causing | Damaging |
PKAB200 | c.585 G > A | p.(Trp195*) | 0/186 | 0 | 1.53 | 8.2 | — | — | — |
PKAB66, PKAB76, PKAB141, PKAB142, PKAB147 | c.649 C > T | p.(Arg217Trp) | — | 0 | 1.53 | 197.9 | Probably damaging | Polymorphism | Tolerated |
PKAB118, PKAB120, PKAB143, PKAB145, PKAB165, PKAB185, PKAB189, PKAB194, LUAB05, LUAB08, LUAB19, PKAB204 | c.832 C > T | p.(Arg278*) | — | 0 | 0 | 190.0 | — | — | — |
PKAB128, PKAB154 | c.896 G > A | p.(Arg299His) | — | 0 | 0 | 74.2 | Probably damaging | Disease causing | Damaging |
PKAB138 | c.943–948delTCAGCT | p.(315–316delSerAla) | — | 0 | 0 | 0 | — | — | — |
PKAB105, PKAB183, PKAB186, PKAB188 | c.1037–7 T > A | Splicing error | — | 0 | 15.38 | 0 | — | — | — |
LUAB01 | c.1037–18 T > G | Splicing error | 0/176 | 0 | 0 | 16.7 | — | — | — |
PKAB197 | c.1037 G > A | p.(Gly346Glu) | 0 | ||||||
PKAB119 | c.1147 G > A | p.(Asp383Asn) | — | 0 | 0 | 165 | Probably damaging | Disease causing | Damaging |
PKAB130 | c.1184 + 2 T > C | Splicing error | 0/178 | 0 | 0 | 8.2 | — | — | — |
PKAB193 | c.1204 C > T | p.(Arg402*) | — | 0 | 0 | 49.84 | — | — | — |
PKAB64, PKAB168 | Exons 4–5 deletion | Frame shift | 0/180 | 0 | 0 | — | — | — | |
PKAB81, PKAB106, PKAB107, PKAB140, PKAB184, PKAB191, LUAB03, LUAB19, GUAB01 | c.1255 G > A | p.(Gly419Arg) | 0 | 0 | 33.12 | Probably damaging | Disease causing | Damaging | |
OCA2 | |||||||||
PKAB070 | Exons 3–14 deletion | Frame shift | 0/176 | 0 | 0 | 0 | — | — | — |
PKAB069, PKAB77 | Exons 7–8 deletion | Frame shift | 0/180 | 0 | 0 | 0 | — | — | — |
LUAB04 | c.987 C > AGA | p.(Gln330Aspfs*2) | 0/184 | 0 | 0 | 0 | — | — | — |
PKAB127, PKAB132, PKAB133, PKAB134, PKAB135, PKAB177, LUAB07, GUAB03 | c.1045–15 T > G | Splicing error | 0 | 41.36 | — | — | — | ||
LUAB02 | c.1056 A > C | p.(Arg352Ser) | 0/182 | 0 | 0 | 0 | Probably damaging | Disease causing | Damaging |
PKAB136 | c.1064 C > T | p.(Ala355Val) | 0/184 | 0.001 | 0 | 289.2 | Probably damaging | Disease causing | Tolerated |
GUAB02 | c.1075 G > C | p.(Gly359Arg) | 0/176 | 0 | 0 | 0 | Probably damaging | Disease causing | Damaging |
PKAB144 | c.1182 + 2 T > TT | Splicing error | 0/180 | 0 | 0 | 0 | — | — | — |
PKAB148 | c.1211 C > T | p.(Thr404Met) | — | 0 | 7.69 | 74.17 | Probably damaging | Disease causing | Damaging |
LUAB06 | c.1322 A > G | p.(Asp441Gly) | 0/178 | 0 | 1.53 | 16.74 | Probably damaging | Disease causing | Tolerated |
PKAB172, PKAB187, GUAB06, LUAB17 | c.1456 G > T | p.(Asp486Tyr) | — | 0 | 0 | 16.74 | Probably damaging | Disease causing | Damaging |
PKAB122 | c.1922 C > T | p.(Ser641Leu) | 0/184 | 0 | 0 | 0 | Probably damaging | Disease causing | Damaging |
LUAB10 | c.1951 + 4 A > G | Splicing error | 0 | 0 | 0 | — | — | — | |
PKAB137 | Exon 19 deletion | Frame shift | 0/174 | 0 | 0 | 0 | — | — | — |
PKAB121 | Exons 20–24 deletion | Frame shift | 0/176 | 0 | 0 | 0 | — | — | — |
PKAB116 | Exons 22–24 deletion | Frame shift | 0/180 | 0 | 0 | 0 | — | — | — |
LUAB09 | c.2228 C > T | p.(Pro743Leu) | — | 0 | 0 | 90.78 | Probably damaging | Disease causing | Damaging |
PKAB170 | c.2360 C > A | p.(Ala787Glu) | 0/182 | 0 | 0 | 0 | Probably damaging | Disease causing | Damaging |
PKAB125 | c.2360 C > T | p.(Ala787Val) | — | 0 | 0 | 24.78 | Probably damaging | Disease causing | Damaging |
TYRP1 | |||||||||
PKAB166 | c.256 G > T | p.(Asp86Tyr) | 0/180 | 0 | 0 | 0 | Probably damaging | Disease causing | Damaging |
PKAB164, PKAB192, PKAB205 | c.1067 G > A | p.(Arg356Gln) | — | 0 | 0 | 25.50 | Probably damaging | Disease causing | Damaging |
PKAB146 | c.1534 C > T | p.(Glu512*) | 0/184 | 0 | 0 | 16.53 | — | — | — |
SLC45A2 | |||||||||
GUAB04, GUAB05 | c.1532 C > T | p.(Ala511Val) | — | 0 | 0 | 8.2 | Probably damaging | Disease causing | Damaging |
