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Table 1 MYO15A variants identified in this study

From: Expansion of phenotypic spectrum of MYO15A pathogenic variants to include postlingual onset of progressive partial deafness

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
  1. 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]
  2. Bold font: novel pathogenic variant
  3. 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