TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5373	16342;16343;16344	chr2:178733059;178733058;178733057	chr2:179597786;179597785;179597784
N2AB	5056	15391;15392;15393	chr2:178733059;178733058;178733057	chr2:179597786;179597785;179597784
N2A	4129	12610;12611;12612	chr2:178733059;178733058;178733057	chr2:179597786;179597785;179597784
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-37
• Domain position: 17
• Structural Position: 26
• Q(SASA): 0.4071
• Predicted PPI site: I

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
T/N	rs1057103177	None	None	N	0.089	0.086	0.200317383148	gnomAD-3.1.2	2.63E-05	None	None	None	None	I	None	4.83E-05	6.55E-05	0	0	0	None	0	0	0	0	4.78469E-04
T/N	rs1057103177	None	None	N	0.089	0.086	0.200317383148	gnomAD-4.0.0	3.72098E-06	None	None	None	None	I	None	4.00577E-05	1.66978E-05	None	0	0	None	0	0	8.48047E-07	0	1.60246E-05

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
T/A	0.0622	likely_benign	0.0657	benign	-0.428	Destabilizing	None	N	0.087	neutral	N	0.430294096	None	None	I
T/C	0.2918	likely_benign	0.3189	benign	-0.311	Destabilizing	0.245	N	0.322	neutral	None	None	None	None	I
T/D	0.1652	likely_benign	0.1808	benign	0.24	Stabilizing	None	N	0.105	neutral	None	None	None	None	I
T/E	0.1609	likely_benign	0.1751	benign	0.186	Stabilizing	0.009	N	0.385	neutral	None	None	None	None	I
T/F	0.1292	likely_benign	0.1363	benign	-0.765	Destabilizing	None	N	0.219	neutral	None	None	None	None	I
T/G	0.132	likely_benign	0.1474	benign	-0.6	Destabilizing	0.004	N	0.277	neutral	None	None	None	None	I
T/H	0.1394	likely_benign	0.1515	benign	-0.818	Destabilizing	0.138	N	0.354	neutral	None	None	None	None	I
T/I	0.0967	likely_benign	0.1016	benign	-0.088	Destabilizing	0.007	N	0.333	neutral	N	0.476778534	None	None	I
T/K	0.1273	likely_benign	0.1338	benign	-0.408	Destabilizing	0.009	N	0.333	neutral	None	None	None	None	I
T/L	0.0814	likely_benign	0.0853	benign	-0.088	Destabilizing	0.009	N	0.361	neutral	None	None	None	None	I
T/M	0.0893	likely_benign	0.0942	benign	0.039	Stabilizing	0.245	N	0.318	neutral	None	None	None	None	I
T/N	0.0669	likely_benign	0.075	benign	-0.204	Destabilizing	None	N	0.089	neutral	N	0.428715228	None	None	I
T/P	0.0728	likely_benign	0.0784	benign	-0.171	Destabilizing	0.033	N	0.335	neutral	N	0.367032051	None	None	I
T/Q	0.1355	likely_benign	0.1458	benign	-0.41	Destabilizing	0.044	N	0.355	neutral	None	None	None	None	I
T/R	0.1072	likely_benign	0.1097	benign	-0.125	Destabilizing	0.044	N	0.329	neutral	None	None	None	None	I
T/S	0.0703	likely_benign	0.0742	benign	-0.47	Destabilizing	None	N	0.095	neutral	N	0.412070908	None	None	I
T/V	0.091	likely_benign	0.0953	benign	-0.171	Destabilizing	None	N	0.111	neutral	None	None	None	None	I
T/W	0.3837	ambiguous	0.3997	ambiguous	-0.738	Destabilizing	0.788	D	0.345	neutral	None	None	None	None	I
T/Y	0.152	likely_benign	0.1596	benign	-0.472	Destabilizing	0.022	N	0.401	neutral	None	None	None	None	I

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.