Table 2. Bioinformatics analysis of ELA2... | American Society of Hematology

Table 2.

Bioinformatics analysis of ELA2 missense mutations

			Predicted effects^*on human ELA2 protein
No.	Mutation^*	Conserved residue†	Polarity and/or charge modifications	Stereochemical constraints	Secondary structure	Ligand interaction	Phenotype‡
1	P13L	Yes	-	+	+	-	1
2	F14L	No	-	-	+	+	2
3	S17F	Yes	+	-	+	-	2
4	L18P	Yes	-	+	+	-	1
5	H24L	Yes	+	-	+	+	1
6	R52P	Yes	+	+	+	+	1
7	V53M	Yes	-	-	+	+	2
8	L55P	Yes	-	+	+	-	1
9	L92P	Yes	-	+	+	-	1
10	S97L	No	-	-	-	-	1, 2
11	A98P	Yes	-	+	-	-	1
12	P110L	Yes	-	+	-	-	1, 2
13	L123P	Yes	-	+	+	-	1
14	G185R	Yes	+	-	+	+	1
15	V1901	Yes	-	-	+	+	2

			Predicted effects^*on human ELA2 protein
No.	Mutation^*	Conserved residue†	Polarity and/or charge modifications	Stereochemical constraints	Secondary structure	Ligand interaction	Phenotype‡
1	P13L	Yes	-	+	+	-	1
2	F14L	No	-	-	+	+	2
3	S17F	Yes	+	-	+	-	2
4	L18P	Yes	-	+	+	-	1
5	H24L	Yes	+	-	+	+	1
6	R52P	Yes	+	+	+	+	1
7	V53M	Yes	-	-	+	+	2
8	L55P	Yes	-	+	+	-	1
9	L92P	Yes	-	+	+	-	1
10	S97L	No	-	-	-	-	1, 2
11	A98P	Yes	-	+	-	-	1
12	P110L	Yes	-	+	-	-	1, 2
13	L123P	Yes	-	+	+	-	1
14	G185R	Yes	+	-	+	+	1
15	V1901	Yes	-	-	+	+	2

- indicates no predicted effect; +, predicted effect.

Bioinformatics analysis is based on the crystal structure of human ELA2 protein (Protein Data Bank ID, 1HNE)

Conserved residues in NE sequences of pig, rat, and mouse

Phenotype 1 refers to patients with SCN and 2 refers to patients with CN