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

Table 1 Mutant alleles of TYR found in ten Pakistani families

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, 36–40]
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, 43–48]

^#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.

ISSN: 1750-1172