An integration into the diagnostic workflow in a pediatric patient suspected of having Marfan syndrome

Egyptian Journal of Medical Human Genetics

Table 1 The effect of amino acid substitution and the associated score

Wild-type Amino acid	Position	Variant Amino Acid	Predicted effect	Score	Expected Accuracy (%)
C	239	A	effect	88	91
C	239	R	effect	97	95
C	239	N	effect	96	95
C	239	D	effect	97	91
C	239	C	neutral	− 99	97
C	239	Q	effect	97	95
C	239	E	effect	98	95
C	239	G	effect	97	95
C	239	H	effect	98	95
C	239	I	effect	96	95
C	239	L	effect	96	95
C	239	K	effect	98	95
C	239	M	effect	96	95
C	239	F	effect	97	95
C	239	P	effect	98	95
C	239	S	effect	94	95
C	239	T	effect	96	95
C	239	W	effect	98	95
C	239	Y	effect	96	95
C	239	V	effect	95	95