Table 2.
Variant | Nucleotide | # of patients (%) |
---|---|---|
K8 Y54H | TAT→CAT | 1 (0.3) |
K8 G62C | GGC→TGC | 4 (1.2) |
K8 T153A | ACT→GCT | 1 (0.3)* |
K8 R341H | CGT→CAT | 23 (6.7)** |
K8 V380I | GTC→ATC | 2 (0.6) |
K8 G422V | GGT→GTT | 1 (0.3) |
K8 G434S | GGC→AGC | 11 (3.2) |
K8 I466V | ATC→GTC | 1 (0.3)* |
K18 V48A | GTG→GCG | 1 (0.3) |
K18 G69A | GGG→GCG | 1 (0.3) |
K18 Δ65–72 | N/A | 1 (0.3) |
Total | 45 (13.1) |
All described variants are heterozygous. Keratin variants were assigned as significant based on previous human association studies, documented biological effects or protein structure considerations. Five patients harbored two independent amino-acid altering K8variants (2 K8A319S+R341H; 1 K8T153A+R341H; K8 R341H+I466V; 1 K8 I63V+V380I).
Represents compound heterozygous variants.
Two of the highlighted variants represent compound heterozygous amino-acid-altering variants.
Bold lettering signifies novel variants which were not previously described.