Table 1.
Chromosome 20 Coordinates | cDNA Alteration | Amino Acid Alteration | Exon | Mutation | ExAC Allele Frequency | ExAC Homozygotes Frequency | NNSplice | SIFT | PolyPhen-2 | MutationTaster |
---|---|---|---|---|---|---|---|---|---|---|
31,573,615G>A | c.824C>T | p.Thr275Met | 11 | missense | 4/121,306 | 0/121,306 | – | 0.00 (D) | 0.999 (D) | 1.000 (D) |
31,571,674G>A | c.1066C>T | p.Arg356Cys | 13 | missense | 6/121,306 | 0/121,306 | – | 0.00 (D) | 0.999 (D) | 1.000 (D) |
31,583,474A>T | c.485T>A | p.Met162Lys | 8 | missense | not found | not found | – | 0.02 (D) | 0.042 (B) | 0.778 (N)b |
31,585,452CT>C | c.381delA | p.Val128Serfs∗7 | 6 | frameshift | 27/121,228 | 0/121,228 | – | – | – | 1.000 (D) |
31,573,658C>T | c.781G>A | p.Val261Met | 11 | missense | not found | not found | – | 0.04 (D) | 0.999 (D) | 0.987 (D) |
31,589,080C>T | c.216G>A | p.Trp72∗ | 4 | nonsense | not found | not found | – | – | – | 1.000 (D) |
31,571,697T>A | c.1043A>T | p.Asn348Ile | 13 | missense | 9/120,234 | 0/120,234 | – | 0.01 (D) | 0.985 (D) | 0.993 (D) |
31,584,129C>T | c.425+1G>A | – | 7 | splice site | 2/121,152 | 0/121,152 | 1.00 to <0.10a | – | – | 1.000 (D) |
31,573,588G>C | c.851C>G | p.Ser284∗ | 11 | nonsense | not found | not found | – | – | – | 1.000 (D) |
31,587,880C>T | c.340G>A | p.Gly114Arg | 5 | splice site | not found | not found | 0.52 to <0.10a | 0.35 (T) | 0.954 (D) | 0.990 (D) |
(D), deleterious; (N), neutral; (T), tolerated; (B), benign.
The mutations c.425+1G>A and p.Gly114Arg were predicted to cause loss of a donor splice site.
The mutation p.Met162Lys was predicted by MutationTaster to cause loss of coil structure.