Molecular Vision: Renugadevi, Mol Vis 2010; 16:1514-1524. Table 3

Table 3. Mutations and polymorphisms in TYR, P, TYRP1, MATP, and GPR143.

				Mutations
Gene	Patient ID	Exon	Intron	Alteration in c.DNA	Alteration in protein	SNPs
TYR	55–1	1		c. 715 C>T	R239W	I222V*±
	35–1	2		c. 832 C>T	R278X
	40–1	2		c. 896 G>A	R299H
	24–1	4		c.1255 G>A	G419R
	49–1	1				I222V*±
	32–1	1 & 4				I222V*±& R402Q ±
P	11–1, 52–1	14		c.1453 G>A	G485R#
	17–1, 21–1, 24–1, 35–1, 46–1, 49–1, 54–1, 55–1, 58–1 (H)		20			IVSXX+4 A/G*
TYRP1	25–1	2				Arg87Arg
MATP	16–1, 44–1 (h)
	5–1, 14–1, 17–1, 21–1, 35–1, 41–1, 52–1, 58–1, 62–1 (H)	4				Thr329Thr
	42–1 (h)	5				Leu374Phe
	32–1 (H)	7				rs45552240
GPR143	50–1 (h)
	24–1, 46–1, 49–1, 58–1 (h)
	54–1, 21–1, 32–1, 52–1 (H)		6			IVSV1+10C/G

In the table, # indicates a novel homozygous mutation (PMID: 19309806); the asterisk indicates a novel polymorphism; (H) indicates Heterozygous; and (h) indicates - Homozygous. Among the 23 Albinism families, the probands from 22 OCA families shows either mutation or polymorphism except the proband from family 39–1, In GPR143, one SNP was observed on the OA proband alone. Among the candidate gene analysis, a novel mutant was observed on OCA2 that was absent in 100 alleles of ethnically matched controls and could represent potential amino acid change in the gene.