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Table 2 LRP2 mutations Identified in the CS06 and CS08

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

Family ID Variation Exon Bioinformatics Analysis Conservation Analysis Frequency in Databases
Nucleotide* Amino Acid Type Status SIFT PolyPhen-2 Mutationtaster 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
  1. 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
  2. *Sequence data from this article have been deposited with the GenBank Data Libraries under Accession NM_004525