Table 2. Known and new alternatively spliced SGCE exons revealed by screening the entire SGCE gene in one control subject with ultra-deep sequencing.

					Splice site					NG_008893.1
Alternatively spliced exons	Exon	Brain (%)	Heart (%)	Blood (%)	D	A	FS/IF	NMD	Exon size (bp)	Start	End
Known	2a	98.20	94.80	78.50	+	+	IF	−	123	31 369	31 491
	8a	7.20	96.00	96.00	+	+	IF	−	27	61 487	61 513
	10a	0.03	0.03	1.25	−	+	IF	−	75	63 206	63 280
	11ba	33.92	0.05	—	−	−	FS	−	35	73 398	73 432
New	1a	0.66	0.31	1.08	+	+	FS	+	62	16 543	16 604
	1b	0.03	0.11	—	+	+	FS	+	68	20 246	20 313
	1ca	5.70	1.96	2.25	+	−	IF	−	108	21 762	21 869
	3a	—	0.03	—	+	−	FS	+	102	36 163	36 264
	3ba	0.43	0.02	—	+	+	FS	+	31	36 961	36 991
	3c	0.05	—	—	+	+	FS	+	130	37 052	37 181
	3da	—	0.17	—	+	−	FS	+	35	37 655	37 689
	4aa	0.80	0.94	1.66	+	+	IF	−	81	38 584	38 664
	4b	0.14	0.37	—	−	+	FS	+	110	38 584	38 693
	4c	0.07	0.12	—	+	+	FS	+	147	39 215	39 361
	4d	—	0.01	—	+	+	FS	+	94	39 504	39 597
	5a	—	—	0.06	−	+	FS	+	176	45 589	45 764
	8a	0.08	0.11	0.51	+	−	FS	+	74	61 810	61 883
	10a	0.01	—	—	−	+	FS	+	76	66 703	66 778
	10b	0.02	—	—	+	+	FS	+	115	66 664	66 778
	11a	0.04	—	—	+	−	FS	−	68	73 177	73 244
	11da	0.03	—	0.12	−	−	FS	−	107	73 326	73 432
	11ca	0.70	0.28	0.41	−	−	FS	−	72	73 361	73 432
	11fa	0.33	—	—	−	−	FS	−	51	73 382	73 432

Additional information of alternatively spliced SGCE exons include: occurrence of respective exons in the brain (SM1), heart and blood of control subject 1 in percent; splice sites according to www.fruitfly.org, NNSPLICE 0.9 version (minimum score for 3′/5′, splice site 0.5): splice donor (D)/acceptor (A), frameshift (FS) or in-frame (IF) exons, isoform subject to nonsense-mediated decay (NMD), exon size in bp, nucleotide position according to NG_008893.1. Constitutive exons (100% expression) are not shown.

^aExons that were sequenced in definite M–D patients, in which no mutation could be identified.