Table 1.
MYO15A variants identified in this study
| Family | Nucleotide change | Amino acid change | Domain | GERP++ | PhyloP | In silico prediction | MAF in ExAC | MAF in KRGDB | Classification of pathogenic variants | Published reference (PMID) | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PP2 | S | MT | ||||||||||
| SB246 | c.5504G > A | p.R1835H | myosin motor | 5.78 | 6.226 | P | D | D | 0.00002 | ND | PP1 | This study |
| c.10245_10247delCTC | p.S3417del | FERM | 1st:2.43, 2nd:5.81, 3rd:5.81 |
1st:0.852, 2nd:5.08, 3rd:6.153 |
NA | D | D | 0.00003 | ND | PVS1 | 25,792,667,27,375,115, This study | |
| SB224 | c.9790C > T | p.Q3264X | FERM | 5.61 | 4.314 | NA | NA | D | ND | ND | PVS1 | This study |
| c.10263C > G | p.I3421M | FERM | 2.74 | 1.404 | P | D | D | 0.00003 | 0.000804 | PP1 | 23,967,202, This study | |
Nomenclature is based on NCBI accession number NM_016239.3. Pathogenic variants are described in the context of the American College of Medical Genetics and Genomics (ACMG) 2015 guidelines [26]
Bold font: novel pathogenic variant
Conservation tools: GERP++ score in the UCSC Genome Browser (http://genome-asia.ucsc.edu/);PhyloP score from the Mutation Taster (http://www.mutationtaster.org/), in silico prediction tools: PP2 Polyphen-2 (http://genetics.bwh.harvard.edu/pph2/index.shtml), S SIFT (http://sift.jcvi.org/www/SIFT_chr_coords_submit.html) or SIFT-indels2 (http://sift.bii.a-star.edu.sg/www/SIFT_indels2.html); MT Mutation Taster, ExAC Exome Aggregation Consortium (http://exac.broadinstitute.org/), KRGDB Korean Reference Genome DB (http://152.99.75.168/KRGDB/menuPages/firstInfo.jsp), P predicted probably damaging;D, either disease causing or damaging, NA an abbreviation for not applicable, ND not detected