Table 1 Rare variants predicted to be potentially deleterious
From: Investigation of SLA4A3 as a candidate gene for human retinal disease
SNPa ID | Genomic Location | A1b | A2c | Possible effect on splice sites | Nucleotide change | Codon change | Reference SNP (rs) ID | Predicted to be Pathogenic byd |
|---|---|---|---|---|---|---|---|---|
1 | 2:220494940 | C | T | None | c.758C>T | S253L | rs36068948 | PP |
2 | 2:220505656 | G | A | Introduction of acceptor site (0.00-0.81) | c.3674G>A | R1225Q | rs150952379 | PP, S, PM, N |
3 | 2:220502903 | G | A | Loss of acceptor site (0.45-0.00) | c.2865G>A | G995G | rs387907534 | N |