Exon |
2 |
2 |
15 |
11 |
Code change |
AGA - ACA |
ACG - ATG |
CAT- CGT |
|
Nucleotide Change |
G107C |
C221T |
A2162G |
Exon11-1G>A |
CADD C-Score Predication |
C-Score 24.8 |
C-Score 18.64 |
C-Score 11.67 |
|
INSIGHT Fitcon Scores Predication |
Fitcon Score:0.447 |
Fitcon Score:0.447 |
Fitcon Score:0.55 |
|
PolyPhen-2 Predication |
Possibly damaging (Score 0.791) |
Benign (Score 0.342) |
Possibly damaging (Score 0.791) |
|
Risk or Protection Allele |
Risk |
Protection |
Risk |
Risk |
No.of carrier families |
1 |
1 |
1 |
1 |
Number of Affected/Number of SOX5 Mutation carriers |
2/2 |
2/0 |
2/2 |
2/2 |
Number of Unaffected/Number of SOX5 Mutation carriers |
0 |
3/3 |
2/1 |
0 |
APOE-ε4 status |
2 affected were heterozygous |
2 unaffected were homozygous; 1 unaffected was heterozygous |
All 4 were heterozygous |
1 affected was heterozygous |