Table 1.
Germline mutations in the ACD and TERF2IP genes identified in melanoma families by exome sequencing
|
Family
ID |
Chr | Start* | Gene | cDNA change | mRNA refSeq | Protein change | Protein refSeq | Case patients in family | Genotyped case patients who are carriers† | VAF ESP6500‡ | Polyphen2 prediction§ | SIFT prediction§ | GERP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AUS1 | 16 | 67692665 | ACD | c.958C>T | NM_001082486 | p.Q320X | NP_001075955.1 | 5 | 4/4 | 0 | (truncating) | (truncating) | 2.28 |
| AUS2 | 16 | 67693137 | ACD | c.746A>G | NM_001082486 | p.N249S | NP_001075955.1 | 5 | 7/7 | 3/8597 | benign | tolerated | -9.69 |
| DK1 | 16 | 67693137 | ACD | c.746A>G | NM_001082486 | p.N249S | NP_001075955.1 | 4 | 3/4 | 3/8597 | benign | tolerated | -9.69 |
| AUS3 | 16 | 67692920 | ACD | c.814G>A | NM_001082486 | p.V272M | NP_001075955.1 | 3 | 2/2 | 0 | probably damaging | damaging | 3.44 |
| AUS4 | 16 | 67693513 | ACD | c.598G>A | NM_001082486 | p.A200T | NP_001075955.1 | 6 | 4/6 | 0 | probably damaging | damaging | 3.4 |
| AUS5 | 16 | 67692659 | ACD | c.964A>T | NM_001082486 | p.I322F | NP_001075955.1 | 5 | 3/4 | 0 | possibly damaging | damaging | 0.87 |
| UK1 | 16 | 75690399 | TERF2IP | c.1090C>T | NM_018975 | p.R364X | NP_061848.2 | 4 | 3/3 | 0 | (truncating) | (truncating) | 4.88 |
| AUS6 | 16 | 75682352 | TERF2IP | c.572A>G | NM_018975 | p.Q191R | NP_061848.2 | 2 | 2/2 | 0 | benign | tolerated | 4.62 |
| SE1 | 16 | 75681808 | TERF2IP | c.28G>C | NM_018975 | p.D10H | NP_061848.2 | 5 | 1/3 | 0 | probably damaging | damaging | 5.75 |
| AUS7 | 16 | 75681795 | TERF2IP | c.15G>A | NM_018975 | p.M5I | NP_061848.2 | 1 | 1/1 | 0 | benign | damaging | 2.55 |
* Genome build GRCh37, hg19. GERP = Genomic Evolutionary Rate Profiling score.
† Includes obligate carriers.
‡ European American population.
§ Effect of nonsense mutations not predicted by either Polyphen2 or SIFT are annotated as truncating.