Table 1. Positions of point mutations in... | American Society of Hematology

Table 1.

Positions of point mutations in the spectrin self-association domain

Codon	Position in 106 residue repeat	Amino acid	Mutant	Comment	RMSΔ^* (Å)	Clinical severity	Reference
β-Spectrin
2018	11	A	G	Spectrin Cagliari	4.5729	2	43
2019	12	S	P	Spectrin Providence	4.4747	3	37
2023	16	A	V		4.9564	3	44
2024	17	W	R		3.3006	2	44
2025	18	L	R	Spectrin Buffalo	4.9359	3	42
2053	46	A	P		4.3999	3	24
2061	54	W	R		ND	2	25,45
2064	57	R	P	Spectrin Cosenza	ND	2	46
α-Spectrin
24	79	I	S		2.8271	1	44
28	83	R	H	Spectrin Tunisia	5.3170	3	38, 47-49
28	83	R	S		6.2351	4	48, 50
28	83	R	L		10.0354	4	48, 50
28	83	R	C		5.1409	3	48, 51
34	89	R	W	Spectrin Genova	3.7954	2	52
41	96	R	W	Spectrin Tunis	3.1034	1	53
45	100	R	S		3.1557	2	54
45	100	R	T	Spectrin Anastasia	ND	1	55
46	101	G	V	Spectrin Culoz	4.7368	3	56
48	103	K	R		2.4822	0	50
49	104	L	F	Spectrin Lyon	3.1990	1	56

Codon	Position in 106 residue repeat	Amino acid	Mutant	Comment	RMSΔ^* (Å)	Clinical severity	Reference
β-Spectrin
2018	11	A	G	Spectrin Cagliari	4.5729	2	43
2019	12	S	P	Spectrin Providence	4.4747	3	37
2023	16	A	V		4.9564	3	44
2024	17	W	R		3.3006	2	44
2025	18	L	R	Spectrin Buffalo	4.9359	3	42
2053	46	A	P		4.3999	3	24
2061	54	W	R		ND	2	25,45
2064	57	R	P	Spectrin Cosenza	ND	2	46
α-Spectrin
24	79	I	S		2.8271	1	44
28	83	R	H	Spectrin Tunisia	5.3170	3	38, 47-49
28	83	R	S		6.2351	4	48, 50
28	83	R	L		10.0354	4	48, 50
28	83	R	C		5.1409	3	48, 51
34	89	R	W	Spectrin Genova	3.7954	2	52
41	96	R	W	Spectrin Tunis	3.1034	1	53
45	100	R	S		3.1557	2	54
45	100	R	T	Spectrin Anastasia	ND	1	55
46	101	G	V	Spectrin Culoz	4.7368	3	56
48	103	K	R		2.4822	0	50
49	104	L	F	Spectrin Lyon	3.1990	1	56

Root-mean square deviation of the predicted backbone structure compared to the Drosophila 14th repeat crystal structure, as reported by Yan and colleagues.17 The fit for the wild-type Drosophila sequence = 1.9897 Å; wild-type (normal) human = 2.8457 Å.

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