Table 1 of Li, Mol Vis 2016; 22:161-167.

Table 1. LOXL3 mutations identified in families with early-onset high myopia.

Family Exon Position DNA change Protein change Status Co-segregation Note Allele frequency
Normal control Others§ Databases#
HM293 E2 74779723 c.39dup p.L14Afs*21 Homo Yes Novel 0/960 0/1014 None
HM407 E2 74779723 c.39dup p.L14Afs*21 Hetero Yes Novel 0/960 0/1014 None
HM407 E4 74776594 c.594delG p.Q199Kfs*35 Hetero Yes Novel 0/960 0/1014 None

Note: Homo, homozygous; Hetero, heterozygous. §, Samples from patients with other eye diseases, including glaucoma and retinal degeneration. #, Databases including 1000Genomes, Exome Variant Server, dbSNP, and Exome Aggregation Consortium.

Li, Mol Vis 2016; 22:161-167. http://www.molvis.org/molvis/v22/161

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