Table 1.
Details of TKFC Homozygous Variants Identified in Affected Members of Families 1 and 2
| Variant Details | Family 1 | Family 2 |
|---|---|---|
| Position (GRCh37) | 11:61113875 | 11:61112824 |
| Canonical transcript | NM_015533.3 | NM_015533.3 |
| cDNA change | c.1628G>T | c.1333G>A |
| Protein change | p.Arg543Ile | p.Gly445Ser |
| In Silico Predictions | ||
| SIFT prediction/score | deleterious/0 | deleterious/0.01 |
| PolyPhen prediction/score | probably damaging/1 | probably damaging/0.99 |
| Mutation taster prediction/score | disease causing/1 | disease causing/1 |
| PROVEN prediction/score | damaging/−7.11 | damaging/−5.59 |
| Condel prediction/score | deleterious/0.945 | deleterious/0.858 |
| CADD PHRED score | 32 | 32 |
| Minor Allele Frequency | ||
| gnomAD | 2.40E−05 | not in gnomAD |
| homozygous allele | none | none |
| SNP/variant accession number | dbSNP: rs547013163 | – |