Expanding the phenotypic spectrum of mutations in LRP2: a novel candidate gene of non-syndromic familial comitant strabismus

Table 2 LRP2 mutations Identified in the CS06 and CS08

Family ID	Variation				Exon	Bioinformatics Analysis			Conservation Analysis	Frequency in Databases
Family ID	Nucleotide*	Amino Acid	Type	Status	Exon	SIFT	PolyPhen-2	Mutationtaster	Conservation Analysis	1000G (Al l)	1000G (EAS)	gnomAD (All)	gnomAD (EAS)	TOPMed
CS08	c.335A > G	p. Q112R	M	Het	4	Damaging /0.004	Prob /0.955	Disease causing	Conserved	None	None	0.00002389	0.0003262	None
CS06	c.7274A > G	p. D2425G	M	Het	39	Damaging /0.003	Prob /0.819	Disease causing	Conserved	None	None	None	None	None

M, Missense; Het, heterozygous; Prob, probably damaging; HGMD, the Human Gene Mutation Database; ExAC, Exome Aggregation Consortium; 1000G, 1000 Genomes Project; EAS, East Asian; gnomAD, The Genome Aggregation Database; TOPMed, Trans-Omics for Precision Medicine Program
^*Sequence data from this article have been deposited with the GenBank Data Libraries under Accession NM_004525

ISSN: 1479-5876