Table 2. Conservation scores and frequencies of SNPs in ATPase genes found in a Greek Family with atypical Hailey Hailey disease.

Gene	ExonicFunc	Aminoacid Change	ESP5400_ALL	1000genomes_ALL	dbSNP135	AVSIFT	LJB_PhyloP	LJB_SIFT	LJB_PolyPhen2
ATP2C1	frameshift deletion	NM_001199182:c.2355_2358del:p.785_786del	NA	NA	NA	NA	NA	NA	NA
ATP13A5	nonsynonymous SNV	NM_198505:c.T3392C:p.V1131A	0.368935	0.36	rs2271791	0.16	0.998904	0.99	35
ATP13A5	nonsynonymous SNV	NM_198505:c.G2215A:p.G739S	0.538855	0.55	rs2280268	0.53	0.857449	0.56	0.0030
ATP13A5	nonsynonymous SNV	NM_198505:c.G397C:p.E133Q	0.549080	0.53	rs6797429	0.96	0.99508	0.4	0.0
ATP13A5	nonsynonymous SNV	NM_198505:c.C287A:p.S96Y	0.371537	0.41	rs12637558	0.02	0.992706	0.98	994
ATP11A	nonsynonymous SNV	NM_015205:c.G2743A:p.A915T	0.020450	0.02	rs61746637	0.14	0.999472	0.83	0.682206
ATP9B	nonsynonymous SNV	NM_198531:c.A617T:p.Q206L	0.001952	0.0009	rs138177421	0.23	0.980726	0.63	0.0010
ATP2B3	nonsynonymous SNV	NM_001001344:c.C422T:p.S141L	NA	NA	NA	0.12	0.980682	0.8	0.0

Gene = Gene name for variant, ExonicFunc = synonymous, non-synonymous, indel, etc., SNV = single nucleotide variant, Aminoacid Change = variant change in nucleotide and protein format, ESP5400_ALL = MAF in Exome Sequencing Project dataset (5,400 exomes) for all populations, 1000genomes_ALL = MAF in 1000Genomes February 2012 release, dbSNP135 = RS# from the dbSNP database, AVSIFT = SIFT Pathogenicity score: closer to 0 is more damaging, LJB_PhyloP = Pathogenicity score from dbNSFP: conserved > 0.95, not conserved < 0.95, LJB_SIFT = Pathogenicity score from dbNSFP: tolerated < 0.95, deleterious > 0.95, LJB_PolyPhen2 = Pathogenicity score from dbNSFP: probably damaging > 0.85, possibly damaging 0.85–0.15, benign < 0.15, NA = not available.