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Table 1 The candidate gene variants under different genetic models

From: Multi-level consistent changes of the ECM pathway identified in a typical keratoconus twin’s family by multi-omics analysis

Gene Mutation types Nucleotide change Amino acid change Mutation Taster Source Genetic models
PKDREJ missense_SNV NM_006071.1:c.2708 T > C NP_006062.1:p.(Ile903Thr) polymorphism I-1(F) autosomal recessive
PKDREJ missense_SNV NM_006071.1:c.1780C > G NP_006062.1:p.(Leu594Val) disease causing I-2(M)
FGA missense_SNV NM_000508.4:c.709 T > C NP_000499.1(LRG_557p1):p.(Phe237Leu) polymorphism de novo de novo
WNT16 frameshift_insertion NM_016087.2:c.1_2insCCCA NP_057171.2:p.(Met1?) disease causing I-1(F) polygenic
CD248 nonframeshift_deletion NM_020404.2:c.1326_1328del NP_065137.1:p.(Ser443del) disease causing I-1(F)
COL6A5 stopgain NM_001278298.1:c.7772del NP_001265227.1:p.(Leu2591Ter) disease causing I-1(F)
ADAMTS3 missense_SNV NM_014243.2:c.181C > T NP_055058.2:p.(Leu61Phe) disease causing I-1(F)
COL4A3a missense_SNV NM_000091.4:c.4607 T > C NP_000082.2(LRG_230p1):p.(Ile1536Thr) disease causing I-2(M)
ADAMTS20 missense_SNV NM_025003.4:c.2228G > A NP_079279.3:p.(Gly743Glu) disease causing I-2(M)
COL6A2 splicing NM_001849.3:c.1817-3dup NP_001840.3(LRG_476p1):p.? disease causing I-2(M)
COL11A2 splicing NM_080680.2:c.1819-18_1819-9del NP_542411.2:p.? polymorphism I-2(M)
COL23A1 splicing NM_173465.3:c.960 + 3dup NP_775736.2:p.? polymorphism I-2(M)
COL18A1 splicing NM_030582.3:c.1279-7dup NP_085059.2:p.? polymorphism I-2(M)
PTPRZ1 nonframeshift_deletion NM_002851.2:c.4290_4292del NP_002842.2(LRG_1387p1):p.(Asp1431del) disease causing I-1(F) or I-2(M)
ADAMTS16 splicing NM_139056.3:c.1314-6_1314-5dup NP_620687.2:p.? polymorphism I-1(F) and I-2(M)
  1. Notes: F proband’s father, M proband’s mother, FPKM Fragments per kilobase of exon model per million mapped fragments, N-HCF normal HCF cells
  2. areported candidate gene
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172