Appendix 1 of Preising, Mol Vis 2011; 17:939-948.


Appendix 1. Evaluation of the effect of variants identified in this study.

To access the table, click or select the words “Appendix 1.” This will initiate the download of a pdf archive that contains the table. a84 index alleles in analysis, b332 index alleles in analysis, c344 index alleles in analysis, din cis with p.G312V, e114 index alleles in analysis, fprediction was performed by 1. PolyPhen, psd: possibly deleterious, pbd: probably deleterious, b: benigne, 2. SIFT, nt: not tolerated, tol: tolerated, 3: SSF, IVS: Intron (Intervening sequence), gray shaded rows indicate variants within tyrosinase copper binding domains, GenBank accession numbers: GPR143 (Z48804, NM_000273.2), OCA2 (NG_009846.1, NM_000275.2), TYR (M27160, NM_000372.4), MC1R (NG_012026); RISN – Variant was reported previously and is listed in locus specific database at the Retina International Scientific Newslettergyes: segregates with the phenotype inside the family, no: does not segregate, unknown: no further affected relative available for testing, RHC: Raid Hair Color Allele [19].