Table 2. ERGIC-53 Mutation Analysis in... | American Society of Hematology

Table 2.

ERGIC-53 Mutation Analysis in 19 Combined Factors V and VIII Deficiency Families

Family	Country of Origin	ERGIC-53 Gene Mutation^*	Amino Acid Substitution
1	Japan	C604 → T, exon 5	Arg202 → stop
2	Japan	del C422, exon 3^†	Frameshift at aa 141
3	Japan	Unknown
4	Italy	T2 → C, exon 1	Met1 → Thr
5	Italy	Unknown
6	Italy	Unknown
7	Italy	T2 → C, exon 1	Met1 → Thr
8	Italy	Unknown
9	Italy	T2 → C, exon 1	Met1 → Thr
10	Italy	T2 → C, exon 1	Met1 → Thr
11	Venezuela (Iranian Jewish)	ins G85-89, exon 1	Frameshift at aa 31
12	Venezuela	del A720-A735 (16 bp), exon 6	Frameshift at aa 240
13	Venezuela	Unknown
14	Venezuela	Unknown
15	France	A904 → T, exon 8	Lys302 → stop
16	Turkey	Unknown
17	United States (Armenian)	del A1519-1524, exon 13	Frameshift at aa 508
18	United States	del TC1109-1112, exon 9	Frameshift at aa 371
19	United States	Unknown

Family	Country of Origin	ERGIC-53 Gene Mutation^*	Amino Acid Substitution
1	Japan	C604 → T, exon 5	Arg202 → stop
2	Japan	del C422, exon 3^†	Frameshift at aa 141
3	Japan	Unknown
4	Italy	T2 → C, exon 1	Met1 → Thr
5	Italy	Unknown
6	Italy	Unknown
7	Italy	T2 → C, exon 1	Met1 → Thr
8	Italy	Unknown
9	Italy	T2 → C, exon 1	Met1 → Thr
10	Italy	T2 → C, exon 1	Met1 → Thr
11	Venezuela (Iranian Jewish)	ins G85-89, exon 1	Frameshift at aa 31
12	Venezuela	del A720-A735 (16 bp), exon 6	Frameshift at aa 240
13	Venezuela	Unknown
14	Venezuela	Unknown
15	France	A904 → T, exon 8	Lys302 → stop
16	Turkey	Unknown
17	United States (Armenian)	del A1519-1524, exon 13	Frameshift at aa 508
18	United States	del TC1109-1112, exon 9	Frameshift at aa 371
19	United States	Unknown

Nucleotide numbers are based on the Genbank file X71661 using the A (nucleotide 22) of the ATG initiatior methionine as +1.

Patient is heterozygous for this mutation with no mutation detected on the other allele.