Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India

Table 12 Comparison of native and the mutant structure with p.E42D variant in Cx26 protein using Expasy’s ProtParam tool

	GJB2		GJB6
Property	Native	p.E42D	Native	p.Q57R	p.E101Q	p.R104H
Number of amino acids	226	226	261	261	261	261
Molecular weight	26215	26201	30387.4	30415.5	30386.4	30368.4
Theoretical pI (Isoelectric point)	9.11	9.11	8.81	8.92	8.92	8.68
Total number of negatively charged residues (Asp + Glu)	18	18	23	23	22	23
Total number of positively charged residues (Arg + Lys)	27	27	29	30	29	28
Total number of atoms	3721	3718	4274	4280	4275	4268
Ext. coefficient assuming all pairs of Cys residues form cystines	52410	52410	52410	52410	52410	52410
Ext. coefficient assuming all Cys residues are reduced	51910	51910	51910	51910	51910	51910
Estimated half life (mammalian reticulocytes, in vitro)	30 hrs	30 hrs	30 hrs	30 hrs	30 hrs	30 hrs
Instability index	42.8	42.8	43.11	42.60	43.11	44.01
Aliphatic index	98.67	98.67	91.07	91.07	91.07	91.07
Grand average of hydropathicity (GRAVY)	0.288	0.288	0.055	0.051	0.055	0.06

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