Table 2.

Significant K8 and K18 variants in ALF patients

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.