The potential role of ocular and otolaryngological mucus proteins in myalgic encephalomyelitis/chronic fatigue syndrome

Table 1 Single Point Mutations in ME/CFS Mucin Proteins Compared to 1000 Genome Reference Population

Gene name	rsID	ME/CFS %	1000 Genome %	Ratio	Effect	Scaled CADD Score	Top % of deleterious changes	Mucin type	Location
MUC16	rs7245949	0.57	0.23	2.53	Missense T > I	12.17	6.09	Membrane bound	Airways, eye, reproductive organs, mesothelium
MUC16	rs1862462	0.50	0.25	2.02	Missense S > L	3.051	49.57
MUC16	rs2547072	0.50	0.25	2.02	Missense T > I	0.635	86.41
MUC16	rs1867691	0.50	0.22	2.30	Missense I > V	0.009	99.79
MUC19	rs10784618	0.77	0.48	1.60	Stop_gained	36	0.03	Gel forming	Airways, eye, middle ear, salivary glands
MUC19	rs11564109	0.24	0.08	2.85	Missense C > Y	24.7	0.34
MUC19	rs2588401	0.80	0.48	1.67	Missense A > T	7.453	18.01
MUC19	rs10878538	0.26	0.11	2.33	5' UTR	4.114	38.82
MUC19	rs1019709	0.82	0.40	2.05	Intron	1.241	75.17
MUC19	rs2588402	0.80	0.48	1.67	Missense A > T	0.069	98.43
MUC22	rs10947121	0.60	0.45	1.33	Missense L > P	5.542	27.95	Membrane bound	Airways, eye, middle ear, salivary glands
MUC22	rs3094672	0.75	0.20	3.67	Missense S > T	0.659	85.94
MUC22	rs9262549	0.72	0.19	3.75	Missense S > T	0.27	93.98

ISSN: 1528-3658