Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease

BMC Genomics

Table 2 Geographical and ethnic differences in minor allele frequency of ATP11B variants & protein function prediction of coding variants

Variants in ATP11B	SNP ID	minor allele frequency			SIFT Score ^a	POLYPHEN V2 Score ^b	Mutation Taster Score ^c
Variants in ATP11B	SNP ID	This study	gnomAD-Genomes East Asian	gnomAD-Genomes European	SIFT Score ^a	POLYPHEN V2 Score ^b	Mutation Taster Score ^c
c.712G > T: p. G238W	NA	0.047%	NA	NA	0.001 (D)	0.471 (P)	1 (D)
c.1322C > T: p. P441L	rs186142123	0.047%	0.060%	0	0.101 (T)	0 (B)	0.995 (D)
c.1763-5 T > -	NA	0.047%	NA	NA	NA	NA	NA
c.2861G > A: p. R954H	rs143776237	0.559%	0.260%	0.005%	0.29 (T)	0.002 (B)	0.92 (N)
c.3152 + 11A > G	rs201924008	0.186%	0	0.005%	NA	NA	NA
c.3307G > A: p. E1103K	rs138771155	0.233%	0.390%	0	0.005 (D)	0.221 (B)	1 (D)
c. 3319-4G > T	rs773539019	0.093%	0.190%	0	NA	NA	NA
c.770-1236C > T	rs148771930	NA	0	0.292%	NA	NA	NA

Abbreviations: SNP, single nucleotide polymorphism; gnomAD, Genome Aggregation Database; SIFT, Sorting Intolerant From Tolerant; POLYPHEN, Polymorphism Phenotyping; NA, Not available
^aSorting Intolerant From Tolerant Score Pred: D = damaging T = tolerated
^bPolymorphism Phenotyping Score Pred: B = benign P = possibly damaging D = probably damaging
^cMutation Taster Score Pred: A = disease causing automatic D = disease causing N = polymorphism P = polymorphism automatic

ISSN: 1471-2164