Spectrum of disease-causing mutations in protein secondary structures

BMC Structural Biology

Table 7 Spectrum of mutations in turns and bends^a

Amino acid	Original residues	Expected residues	χ²	P value	Mutant residues	Expected residues	χ²	P value
A	20	24	0.79	3.73E-01	21	28	1.85	1.74E-01
C	9	7	0.97	3.26E-01	22	16	1.86	1.72E-01
D	30	35	0.70	4.04E-01	27	19	3.56	5.92E-02
E	14	27	6.28**	1.22E-02	25	16	4.43*	3.54E-02
F	10	16	2.13	1.45E-01	16	19	0.42	5.16E-01
G	128	72	43.23***	4.87E-11	22	27	0.94	3.32E-01
H	17	13	1.12	2.91E-01	18	19	0.04	8.51E-01
I	8	12	1.20	2.73E-01	10	25	8.75**	3.10E-03
K	10	28	11.80***	5.92E-04	17	16	0.02	8.95E-01
L	24	30	1.27	2.60E-01	20	39	9.12**	2.53E-03
M	10	8	0.67	4.13E-01	8	11	0.63	4.27E-01
N	19	26	1.72	1.90E-01	12	19	2.47	1.16E-01
P	24	29	1.02	3.12E-01	33	28	0.81	3.69E-01
Q	7	21	9.71**	1.84E-03	14	16	0.37	5.44E-01
R	69	26	70.17***	5.44E-17	63	40	13.25***	2.73E-04
S	27	34	1.27	2.59E-01	36	44	1.30	2.55E-01
T	16	20	0.68	4.09E-01	22	28	1.37	2.41E-01
V	7	17	6.05**	1.39E-02	42	28	6.72**	9.52E-03
W	4	5	0.07	7.92E-01	16	8	7.33**	6.78E-03
Y	8	11	1.02	3.13E-01	17	14	0.59	4.42E-01
Sum	461	461			461	461

^aχ²-numbers in italics indicate underrepresentation and numbers in bold overrepresentation compared to random distribution based on amino acid frequencies. The results of the χ² are shown with significance level: * P < 0.05; ** P < 0.01; *** P < 0.001.

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