Table 4. The c-mpl gene sequence... | American Society of Hematology

Table 4.

The c-mpl gene sequence analysis in patients with congenital amegakaryocytic thrombocytopenia

Patient identification	Mutation^4-150	Exon no.	Homozygous/heterozygous	Predicted aa sequence^4-151	Inherited from	Patient group
CAMT-1	C127T	2	Homo-	A43X	Not tested	I
CAMT-6	C268T	3	Homo-	R90X	Father/mother	I
	G340A	3	Homo-	V114M	Father/mother
CAMT-9	del378	3	Homo-	Frameshift: 126L WTVX	Father/mother	I
CAMT-13	del235/36	3	Homo-	Frameshift: change in aa 79-161, stop after 161 aa	Not tested	I
CAMT-17	C127T	2	Homo-	A43X	Not tested	I
CAMT-7	G305C	3	Homo-	R102P	Father/mother	II
CAMT-11	C823A	5	Hetero-	P275T	Father	II
	G305C	3	Hetero-	R102P	Mother
CAMT-12	G305C	3	Homo-	R102P	Father/mother	II

Patient identification	Mutation^4-150	Exon no.	Homozygous/heterozygous	Predicted aa sequence^4-151	Inherited from	Patient group
CAMT-1	C127T	2	Homo-	A43X	Not tested	I
CAMT-6	C268T	3	Homo-	R90X	Father/mother	I
	G340A	3	Homo-	V114M	Father/mother
CAMT-9	del378	3	Homo-	Frameshift: 126L WTVX	Father/mother	I
CAMT-13	del235/36	3	Homo-	Frameshift: change in aa 79-161, stop after 161 aa	Not tested	I
CAMT-17	C127T	2	Homo-	A43X	Not tested	I
CAMT-7	G305C	3	Homo-	R102P	Father/mother	II
CAMT-11	C823A	5	Hetero-	P275T	Father	II
	G305C	3	Hetero-	R102P	Mother
CAMT-12	G305C	3	Homo-	R102P	Father/mother	II

aa: amino acid(s).

Although sequencing was performed on genomic DNA, the position of mutations are given as positions in c-mpl-P cDNA.13

Numbering of amino acids according Mpl-P sequence.13