Table II.
Coding variants identified in the study cohort
| cDNA Position (db SNP rs#) |
Amino Acid Change |
Exon and Protein Domains | Functional Predictions | Frequency |
|---|---|---|---|---|
| c.616G>A (NA) |
p.Ala206Thr | Exon 5 (EGF domain) | Benign (PP=0.001; MP=0.374) |
1/126 |
| c.793A>G (NA) |
p.Thr265Ala | Exon 7 (cbEGF domain) | Possibly damaging (PP=0.466; MP=0.561) |
1/126 |
| c.910C>T (rs79223485) |
p.Leu304Leu | Exon 8 (cb-EGF domain) | Benign | 1/126 |
| c.945G>A (rs76764016) |
p.Pro315Pro | Exon 9 (cb-EGF domain) | Benign | 3/126 |
| c.985C>T (rs145036576) |
p.Arg329Cys | Exon 9 (cb-EGF domain) |
Damaging (PP=1.00; MP=0.689) |
1/126 |
| c.1104G>A (NA) |
p.Gln368Gln | Exon 10 (Transmembrane domain) |
Benign | 1/126 |
cDNA positions are based on NCBI reference sequence NM_001077415.2.
The National Center for Biotechnology Information Single Nucleotide Polymorphism (dbSNP) database ‘rs’ number designations are noted when available (http://www.ncbi.nlm.nih.gov/projects/SNP/); NA, not available PP = PolyPhen-2 probability score; MP=MutPred general probability score; PP and MP scores >0.50 are considered to be potentially damaging; cbEGF domain = calcium binding EGF domain;
Frequency is number of individuals with the variant over the total number of individuals resequenced in this study.