Skip to main content

Table 1 Novel mutations in F8 gene

From: Three novel F8 mutations in sporadic haemophilia A cases

Age/Sex

Severity

Exon

Nucleotide change

Amino acid change

Codon/Codon no.

Nucleotide genome ref./cDNA ref.

Affected Domain

4 yr /male

Severe

7

Deletion of T

Frame-shift

CTC → C-C/ 318

159197688/953

A1

35 yr / male

Moderate

17

G → T

Ser → Ile

AGC → ATC/ 1907

154132724/5720

A3

15 & 19 yr /male

Moderate

26

C → A

Tyr → Termination

TAC → TAA/ 2324

154065994/6972

C2

  1. yr (years).