TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26912	80959;80960;80961	chr2:178565398;178565397;178565396	chr2:179430125;179430124;179430123
N2AB	25271	76036;76037;76038	chr2:178565398;178565397;178565396	chr2:179430125;179430124;179430123
N2A	24344	73255;73256;73257	chr2:178565398;178565397;178565396	chr2:179430125;179430124;179430123
N2B	17847	53764;53765;53766	chr2:178565398;178565397;178565396	chr2:179430125;179430124;179430123
Novex-1	17972	54139;54140;54141	chr2:178565398;178565397;178565396	chr2:179430125;179430124;179430123
Novex-2	18039	54340;54341;54342	chr2:178565398;178565397;178565396	chr2:179430125;179430124;179430123
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Ig-139
• Domain position: 33
• Structural Position: 47
• Q(SASA): 0.3568
• Predicted PPI site: N

Reported SAVs

SNV	RS	DUET	PolyPhen-2	Condel	Rhapsody	REVEL	MVP	Source	MAF	Disease	Zygosity	Site annotation	mCSM PPI	Predicted PPI site	Comments	AFR	AMR	AMS	ASJ	EAS	EUR	FIN	MDE	NFE	SAS	OTH
S/Y	rs1198056349	-0.581	0.873	N	0.553	0.449	0.450152462452	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	5.58E-05	None	0	None	0	0	0
S/Y	rs1198056349	-0.581	0.873	N	0.553	0.449	0.450152462452	gnomAD-4.0.0	1.59171E-06	None	None	None	None	N	None	0	0	None	0	2.77454E-05	None	0	0	0	0	0

Saturation Mutagenesis

SAV	AlphaMissense (IC)	AlphaMissense Class (IC)	AlphaMissense (N2AB)	AlphaMissense Class (N2AB)	mCSM	mCSM class	PolyPhen-2	PolyPhen-2 Class	Rhapsody	Rhapsody Class	Condel	Condel Score	Site annotation	mCSM PPI	Predicted PPI site
S/A	0.0758	likely_benign	0.0746	benign	-0.692	Destabilizing	None	N	0.135	neutral	D	0.532638257	None	None	N
S/C	0.0913	likely_benign	0.0914	benign	-0.469	Destabilizing	0.693	D	0.463	neutral	D	0.525960807	None	None	N
S/D	0.3301	likely_benign	0.3161	benign	-0.153	Destabilizing	0.001	N	0.157	neutral	None	None	None	None	N
S/E	0.3414	ambiguous	0.3352	benign	-0.172	Destabilizing	0.002	N	0.131	neutral	None	None	None	None	N
S/F	0.1275	likely_benign	0.1268	benign	-0.978	Destabilizing	0.693	D	0.561	neutral	N	0.497728014	None	None	N
S/G	0.107	likely_benign	0.1077	benign	-0.919	Destabilizing	0.001	N	0.131	neutral	None	None	None	None	N
S/H	0.1822	likely_benign	0.188	benign	-1.402	Destabilizing	0.901	D	0.458	neutral	None	None	None	None	N
S/I	0.1	likely_benign	0.097	benign	-0.204	Destabilizing	0.006	N	0.302	neutral	None	None	None	None	N
S/K	0.3359	likely_benign	0.3504	ambiguous	-0.712	Destabilizing	0.148	N	0.383	neutral	None	None	None	None	N
S/L	0.0715	likely_benign	0.0713	benign	-0.204	Destabilizing	0.08	N	0.388	neutral	None	None	None	None	N
S/M	0.1351	likely_benign	0.1291	benign	0.021	Stabilizing	0.749	D	0.458	neutral	None	None	None	None	N
S/N	0.1049	likely_benign	0.1085	benign	-0.651	Destabilizing	0.08	N	0.403	neutral	None	None	None	None	N
S/P	0.8371	likely_pathogenic	0.8271	pathogenic	-0.334	Destabilizing	None	N	0.213	neutral	D	0.536974717	None	None	N
S/Q	0.2797	likely_benign	0.2775	benign	-0.788	Destabilizing	0.296	N	0.431	neutral	None	None	None	None	N
S/R	0.2653	likely_benign	0.2852	benign	-0.579	Destabilizing	0.296	N	0.511	neutral	None	None	None	None	N
S/T	0.0595	likely_benign	0.0582	benign	-0.658	Destabilizing	0.002	N	0.131	neutral	N	0.430223178	None	None	N
S/V	0.11	likely_benign	0.1039	benign	-0.334	Destabilizing	0.08	N	0.392	neutral	None	None	None	None	N
S/W	0.2846	likely_benign	0.2817	benign	-0.97	Destabilizing	0.972	D	0.545	neutral	None	None	None	None	N
S/Y	0.1423	likely_benign	0.14	benign	-0.703	Destabilizing	0.873	D	0.553	neutral	N	0.499209271	None	None	N

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.