Table 1.
NFASC intragenic variants identified in our cohort
| Family | Genomic coordinates (GRCh37/hg19) | Variant | dbSNP 138 | 1000G | ESP6500 | ExAC | gnomAD | SIFT | PolyPhen | Condel | CADD_ PHRED | GERP++ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 1:204948591–204948591 | ENST00000339876.6 | - | - | - | - | - | Deleterious (0) | Probably damaging (0.998) | Deleterious (0.919) | 25.4 | 5.24 |
| Nfasc186:c.2080C>A:p.P694T | ||||||||||||
| Nfasc155:c.2113C>A:p.P705T | ||||||||||||
| 2 | 1:204986105–204986106 | ENST00000430393.5 | - | - | - | - | - | - | - | - | - | - |
| Nfasc155:c.2816delC:p.P939Ter | ||||||||||||
| Nfasc3:c.2771delC:p.P924Ter | ||||||||||||
| 3 | 1:204923488–204923488 | ENST00000339876.6 | - | - | - | - | - | Tolerated (0.07) | Possibly damaging (0.67) | Deleterious (0.556) | 21.5 | 5.37 |
| Nfasc186:c.388A>G:p.N130D | ||||||||||||
| Nfasc155:c.298A>G:p.N124D | ||||||||||||
| 4 | 1:204951136–204951136 | ENST00000339876.6 | - | - | - | - | - | Deleterious (0) | Probably damaging (1) | Deleterious (0.945) | 28.6 | 5.55 |
| Nfasc186:c.2458T>C:p.S820P | ||||||||||||
| Nfasc155:c.2491T>C:p.S831P | ||||||||||||
| 5 | 1:204939816–204939816 | ENST00000339876.6 | - | - | - | - | - | - | Probably damaging (0.812) | Deleterious (0.75) | 34 | 5.64 |
| Nfasc186:c.1076G>C:p.R359P | ||||||||||||
| Nfasc155:c.1109G>C:p.R370P | ||||||||||||
| 6 | 1:204971817–204971817 | ENST00000339876.6 | - | - | - | - | - | Tolerated (0.09) | Probably damaging (0.986) | Deleterious (0.73) | 22.7 | 5.63 |
| Nfasc186:c.3230T>C:p.V1077A |
A CADD score ≥ 20 indicates that the variant is predicted to be the among the 1% most deleterious substitutions in the protein-coding parts of the human genome. A GERP++ score of close to 6 indicates a high evolutionary conservation of the NFASC sequence across species.