Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients

Table 2

The results of MSSCP genotyping of 41 amplicons representing SCN5A gene.

	Major clinical data	Genetic alterations in DNA sequences of SCN5 amplicons; (reference sequence refNT_022517.17Hs3_22673)
Patient 1	Asymptomatic; Negative pharmacological provocation test; Father of the patient with diagnosed BS	Amplicon 4: pos. 38603806, insertion A, intron; pos. 38603801 homozygote A, intron; Amplicon 8: pos.38589643 insertion A, intron; pos. 38589682 C>A, amino acid pos. 321, S>Y; Amplicon. 17a: pos. 38562732 G>T, amino acid pos. 974, K>D; Amplicon 28c: pos. 385924060 T>C, exon, amino acid pos. 1818 D>D, rs1805126; Amplicon 28f: pos. 38531693 A>G, exon, mRNA position 6365, near 3′UTR, nontraslanted region, rs7429945; Amplicon 28g: pos. 38531355 heterozygote G>A, mRNA position 6703, near 3′UTR, nontraslanted region; Amplicon 28i: pos. 38530974 C>T, exon, mRNA position 7084, near 3′UTR, nontraslanted region; pos. 38531102 C>T, exon, mRNA position 6956, near 3′UTR, nontraslanted region; Amplicon 28k: pos. 38530279 T>C, exon, mRNA pos. 7779, 3′UTR, nontraslanted region, polymorphism rs41315485
Patient 2	History of sudden cardiac arrest; Positive pharmacological provocation test; Diagnosed BS	Amplicon 4: pos. 38603806, insertion A, intron; pos. 38603801 homozygote T>A, intron; Amplicon 6: pos. 38595390 G>C, intron; pos. 38595384 homozygote G>C, intron; Amplicone 7: pos. 38591480 C>G, intron; Amplicon 28g: pos. 38531355 G>A, exon, mRNA position 6703, near 3′UTR, nontraslanted region; Amplicon 28i: pos. 38530974 G>A, exon, mRNA position 7084, near 3′UTR, nontraslanted region
Patient 3	History of sudden cardiac arrest; Positive pharmacological provocation test; Diagnosed BS	Amplicon 1: pos. 38631119 G>A, mRNA pos. 49, nontraslanted region; Amplicon 4: pos. 38604076 G>T, intron; Amplicon 6: pos. 38595390 homozygote C>G, intron; pos. 38595384 homozygote C>G, intron; Amplicon 7: pos. 38591480 C>G, intron; Amplicon 17a: pos. 38562732 G>T, amino acid pos. 974, K>D; Amplicon 28c: pos. 38532617 C>T, exon, amino acid pos. 1749, I>I; pos. 38532614 C>T, exon, amino acid position 1750, F>F; pos. 38592406 T>C, exon, amino acid pos. 1818, D>D, rs1805126; Amplicon 28f: pos. 38531693 A>G, exon, mRNA position 6365, near 3′UTR, nontraslanted region, rs7429945; Amplicon 28g: pos. 38531355 heterozygote G/A, mRNA position 6703, near 3′UTR, nontraslanted region; Amplicon 28i: pos. 38530974 C>T, exon, mRNA position 7084, near 3′UTR, nontraslanted region; pos. 38531102 C>T, exon, mRNA position 6956, near 3′UTR, nontraslanted region; Amplicon 28k: pos. 38530279 T>C, exon, mRNA pos. 7779, 3′UTR, nontraslanted region, polymorphism rs41315485
Patient 4	Asymptomatic; Positive pharmacological provocation test; Brother of the patient with diagnosed BS	Amplicon 4: pos. 38604076 G>T, intron; Amplicon 6: pos. 38595390 homozygote C>G, intron; pos. 38595384 homozygote C>G, intron; Amplicon 12a: pos. 38585541 C>T exon, amino acid pos. 519, S>F; pos. 38585647 homozygote A>T, intron; Amplicon 22: pos. 38544050, heterozygote C/T, intron; Amplicon 24: pos. 38547178 heterozygote A/G, intron, polymorphism rs41312393; Amplicon 28c: pos. 38592406 T>C, exon, amino acid pos. 1818, D>D, rs1805126; Amplicon 28f: pos. 38531693 A>G, exon, mRNA position 6365, near 3′UTR, nontraslanted region, rs7429945; Amplicon 28g: pos. 38531355 G>A, exon, mRNA position 6703, near 3′UTR, nontraslanted region; Amplicon 28i: pos. 38530974 C>T, exon, mRNA position 7084, near 3′UTR, nontraslanted region; pos. 38531102 C>T, exon, mRNA position 6956, near 3′UTR, nontraslanted region
Patient 5	Asymptomatic; Positive pharmacological provocation test; Father of the patient with diagnosed BS	Amplicone 2: pos. 38614716 A>G, exon, amino acid pos. 29, A>A, polymorphism rs6599230; pos. 38614815, G>C, exon, mRNA pos.182, nontraslanted region; Amplicone 4: pos. 38604075 homozygote G>T, intron; Amplicon 6: pos. 38595390 homozygote C>G, intron; pos. 38595384 homozygote C>G, intron; Amplicon 17a: pos. 38562732 G>T, amino acid pos. 974, K>D; Amplicon 17b: pos. 38562471 homozygote A>G, amino acid pos. 1061, E>E, polymorphism rs7430407; Amplicon 24: pos. 38547178 heterozygote A>G, intron, polymorphism rs41312393; Amplicon 27: pos. 38536074 deletion T, intron; pos. 38536077 homozygote T>A, intron; Amplicon 28c: pos. 38592406 T>C, exon, amino acid pos. 1818, D>D, rs1805126; Amplicon 28f: pos. 38531693 A>G, exon, mRNA position 6365, near 3′UTR, nontraslanted region, rs7429945; Amplicon 28g: pos. 38531355 G>A, exon, mRNA position 6703, near 3′UTR, nontraslanted region; Amplicon 28i: pos. 38530853 deletion C, exon, mRNA pos. 7205, near 3′UTR, nontraslanted region; pos. 38530856 insertion A, exon, mRNA pos. 7202, near 3′UTR, nontraslanted region; pos. 38530974 C>T, exon, mRNA pos. 7084, near 3′UTR, nontraslanted region; pos. 38531102 C>T, exon, mRNA pos. 6956, near 3′UTR, nontraslanted region; Amplicon 28k: pos. 38530279 T>C, exon, mRNA pos. 7779, 3′UTR, nontraslanted region, polymorphism rs41315485
Patient 6	Unexplained syncopes; Positive pharmacological provocation test; Diagnosed BS	Amplicon 4: pos. 38603806, insertion A, intron; pos. 38603801 homozygote T>A, intron; Amplicon 6: pos. 38595390 C>G, intron; pos. 38595384 homozygote C>G, intron; Amplicon 7: pos. 38591480 C>G, intron; Amplicon 28f: pos. 38531693 A>G, exon, mRNA position 6365, near 3′UTR, nontraslanted region, rs7429945; Amplicon 28i: pos. 38530853 deletion C, exon, mRNA pos. 7205, near 3′UTR, nontraslanted region; pos. 38530856 insertion A, exon, mRNA pos. 7202, near 3′UTR, nontraslanted region; pos. 38530974 C>T, exon, mRNA pos. 7084, near 3′UTR, nontraslanted region; pos. 38531102 C>T, exon, mRNA pos. 6956, near 3′UTR, nontraslanted region; Amplicon 28k: pos. 38530279 T>C, exon, mRNA pos. 7779, 3′UTR, nontraslanted region, polymorphism rs41315485
Patient 7	Unexplained syncopes; Positive pharmacological provocation test; Diagnosed BS	Amplicon 2: pos. 38614716, A>G, amino acid pos. 29, A>A, polymorphism rs6599230; pos. 38614815, G>C, exon, mRNA pos.182, nontraslanted region; Amplicon 4: pos. 38603806, insertion A, intron; pos. 38603801 homozygote T>A, intron; Amplicon 6: pos. 38595390 C>G, intron; pos. 38595384 homozygote C>G, intron; Amplicon 17a: pos. 38562732 G>T, amino acid pos. 974, K>D; Amplicon 24: pos. 38547178 heterozygote A/G, intron, polymorphism rs41312393; Amplicon 28f: pos. 38531693 A>G, exon, mRNA position 6365, near 3′UTR, nontraslanted region, rs7429945; Amplicon 28i: pos. 38530853 deletion C, exon, mRNA pos. 7205, near 3′UTR, nontraslanted region; pos. 38530856 insertion A, exon, mRNA pos. 7202, near 3′UTR, nontraslanted region; pos. 38530974 C>T, exon, mRNA pos. 7084, near 3′UTR, nontraslanted region; pos. 38531102 C>T, exon, mRNA pos. 6956, near 3′UTR, nontraslanted region; Amplicon 28k: pos. 38530279 T>C, exon, mRNA pos. 7779, 3′UTR, nontraslanted region, polymorphism rs41315485
Patient 8	Asymptomatic; Positive pharmacological provocation test	Amplicon 4: pos. 38603806, insertion A, intron; pos. 38603801 homozygote T>A, intron; Amplicon 6: pos. 38595390 C>G, intron; pos. 38595384 homozygote C>G, intron; Amplicon 7: pos. 38591480 C>G, intron; Amplicon 28f: pos. 38531693 A>G, exon, mRNA position 6365, near 3′UTR, nontraslanted region, rs7429945; Amplicon 28i: pos. 38530853 deletion C, exon, mRNA pos. 7205, near 3′UTR, nontraslanted region; pos. 38530856 insertion A, exon, mRNA pos. 7202, near 3′UTR, nontraslanted region; pos. 38530974 C>T, exon, mRNA pos. 7084, near 3′UTR, nontraslanted region; pos. 38531102 C>T, exon, mRNA pos. 6956, near 3′UTR, nontraslanted region; Amplicon 28k: pos. 38530279 T>C, exon, mRNA pos. 7779, 3′UTR, nontraslanted region, polymorphism rs41315485; Amplicon 28l: pos. 38529996 homozygote C>G, exon, mRNA pos. 8062, near 3′UTR, nontraslanted region