Journal of Ophthalmology / 2017 / Article / Tab 2

Research Article

ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance

Table 2

Variants in the ABCC6 gene identified in the 20 patients with angioid streaks.

ExonNucleotideAmino acidHomozygousHeterozygousTotal (alleles)dbSNP IDHGVD (allele frequency)ExAC East Asian (allele frequency)ExAC total (allele frequency)Polyphen-2 results (HumVar)SIFT resultsPROVEAN resultsPathogenicityReferences

9c.1132C>Tp.Q378X157/40rs726506990.002% (2/427)0.000% (0/8646)0.000% (1/121188)PathogenicLe Saux et al. [2001], Pulkkinen et al. [2001]

10c.1256G>Ap.R419Q044/40rs7724344600.001% (2/1077)0.001% (10/8204)0.000% (10/111520)0.742 (possibly damaging)0.00 (damaging)−3.27 (deleterious)PathogenicIwanaga et al. [2017]
c.1283A>Gp.N428S011/40rs2018806910.009% (20/1123)0.001% (12/8524)0.000% (13/117386)0.999 (probably damaging)0.00 (damaging)−4.69 (deleterious)PathogenicSato et al. [2009] (reported in the controls)

15c.1939C>Tp.H647Y011/40Not reportedNot reportedNot reportedNot reported0.127 (benign)0.01 (damaging)−3.32 (deleterious)PathogenicN/A (novel variant)

19c.2542delGp.V848CfsX8321014/40rs67867306Inconclusive0.003% (27/8654)0.000% (27/121324)PathogenicSato et al. [2009]

24c.3340C>Tp.R1114C011/40rs63749794Not reported0.000% (0/8608)0.000% (12/120184)0.998 (probably damaging)0.00 (damaging)−7.13 (deleterious)PathogenicGheduzzi et al. [2004]
c.3374C>Tp.S1125F011/40Not reportedNot reportedNot reportedNot reported0.992 (probably damaging)0.00 (damaging)−4.85 (deleterious)PathogenicN/A (novel variant)

29c.4069C>Tp.R1357W066/40rs637504280.006% (14/1099)0.001% (5/7944)0.000% (6/107190)1.000 (probably damaging)0.00 (damaging)−6.56 (deleterious)PathogenicMiksch et al. [2005]

N/A = not applicable; HGVD = Human Genetic Variation database (http://www.hgvd.genome.med.kyoto-u.ac.jp/index.html); ExAC = Exome Aggregation Consortium database (http://exac.broadinstitute.org); Polyphen-2 (http://genetics.bwh.harvard.edu/pph2/); SIFT (http://sift.jcvi.org); PROVEAN (http://provean.jcvi.org).

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