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Table 3 Bioinformatic analysis of the two novel mutations

From: NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism

Gene Nucleotide Change Amino acid change SIFT_Predict PolyPhen_2_Predict MutationTaster_Predict Conservation ACMG classification
TYR c.559_560insCATTATTATGTGTCAAATTATCCCC p.G190Cfs*12 NA NA NA Conserved PVS1,PM2,PP4
pathogenic
OCA2 c.1514 T > C p.F505S Damaging Probably_damaging Disease_causing Conserved PM2,PM3,PP3,PP4
likely pathogenic
  1. SIFT_Predict classification: damaging, tolerated; PolyPhen_2_Predict classification: damaging, probably damaging, benign; MutationTaster_Predict classification: disease-causing, polymorphism. ACMG classification: pathogenic, likely pathogenic, uncertain significance, likely benign and benign
  2. NA Not available