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Table 1 Mutant alleles of TYR found in ten Pakistani families

From: Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

Nucleotide change# Exon Effect on protein Frequencies in control samples* Family Ethnicity Polyphen2 SNPs3D Mutation Taster Allele frequency in our OCA1 families Known frequencies in other populations References
Missense
c.62 C > T 1 p.Pro21Leu 0/380 PKAB074 Sayyed Damaging Damaging Pathogenic 10% N/A This study
c.103 T > C 1 p.Cys35Arg 0/380 PKAB001 PKAB065 Malik Malik Jutt Damaging Damaging Pathogenic 20% N/A This study
c.896A > G 2 p.Arg299His 0/372 PKAB109 Warraich Damaging Damaging Pathogenic 10% Caucasian 12.5%; Arab-Christian 1.6%, 2.6% and 3.3%; Chinese 18.75%; Indian 4.34%. [10, 3640]
c.1217 C > T 4 p.Pro406Leu 0/372 PKAB153 Malik Jutt Damaging Damaging Pathogenic 10% Caucasian 2.94% and 25%; German 14.28%. [37, 41, 42]
c.1231 T > C 4 p.Tyr411His 0/372 PKAB103 Arian Damaging Damaging Pathogenic 10% N/A This study
c.1255 G > A 4 p.Gly419Arg 0/372 PKAB073 PKAB078 BhatiJutt Damaging Damaging Pathogenic 20% Caucasian 0.83%; Indo-Pakistan 25%; Pakistan 0.83%; Indian 4.34% and 20%; South-Indian 16.6%. [20, 36, 37, 43, 44]
Nonsense  
c.832 C > T 2 p.Arg278* 0/372 PKAB057 PKAB155 Shaikh Rajpoot     20% Guayanan 12.5%; Jewish 2.6%; Japanese 12.5%, 22.2% and 100%; European 2.5%; Mexican 0.83%; Indian 0.83% and 4.34%; Eastern Indian 8.3%, 25% and 100%; Syrian 0.83%; Chinese 18.75%. [9, 10, 20, 36, 37, 39, 4348]
  1. #Novel mutations are in bold. *Frequencies were determined by sequencing at least 372 chromosomes from geographically and ethnically-matched subjects without any history of ocular disease. N/A: not applicable.