TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5129	15610;15611;15612	chr2:178734439;178734438;178734437	chr2:179599166;179599165;179599164
N2AB	4812	14659;14660;14661	chr2:178734439;178734438;178734437	chr2:179599166;179599165;179599164
N2A	3885	11878;11879;11880	chr2:178734439;178734438;178734437	chr2:179599166;179599165;179599164
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: L
• RefSeq wild type transcript codon: CTT
• RefSeq wild type template codon: GAA
• Domain: Ig-34
• Domain position: 55
• Structural Position: 135
• Q(SASA): 0.1455
• 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
L/I	None	None	None	N	0.194	0.125	0.190952846119	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-05	0	None	0	0	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
L/A	0.0729	likely_benign	0.0834	benign	-1.568	Destabilizing	0.001	N	0.237	neutral	None	None	None	None	N
L/C	0.2201	likely_benign	0.2497	benign	-0.936	Destabilizing	0.676	D	0.542	neutral	None	None	None	None	N
L/D	0.2332	likely_benign	0.2639	benign	-1.239	Destabilizing	0.214	N	0.638	neutral	None	None	None	None	N
L/E	0.1279	likely_benign	0.1382	benign	-1.279	Destabilizing	0.072	N	0.63	neutral	None	None	None	None	N
L/F	0.0617	likely_benign	0.0725	benign	-1.299	Destabilizing	None	N	0.255	neutral	D	0.550148402	None	None	N
L/G	0.1795	likely_benign	0.2127	benign	-1.847	Destabilizing	0.038	N	0.61	neutral	None	None	None	None	N
L/H	0.0811	likely_benign	0.0888	benign	-1.109	Destabilizing	0.828	D	0.626	neutral	D	0.584060269	None	None	N
L/I	0.0549	likely_benign	0.0582	benign	-0.89	Destabilizing	None	N	0.194	neutral	N	0.506438765	None	None	N
L/K	0.1112	likely_benign	0.1138	benign	-0.986	Destabilizing	0.072	N	0.598	neutral	None	None	None	None	N
L/M	0.0681	likely_benign	0.0711	benign	-0.595	Destabilizing	0.214	N	0.519	neutral	None	None	None	None	N
L/N	0.1107	likely_benign	0.1304	benign	-0.743	Destabilizing	0.214	N	0.645	neutral	None	None	None	None	N
L/P	0.4197	ambiguous	0.48	ambiguous	-1.085	Destabilizing	0.295	N	0.637	neutral	D	0.649304493	None	None	N
L/Q	0.0661	likely_benign	0.0692	benign	-1.014	Destabilizing	0.356	N	0.601	neutral	None	None	None	None	N
L/R	0.0819	likely_benign	0.0803	benign	-0.349	Destabilizing	0.171	N	0.604	neutral	N	0.497256	None	None	N
L/S	0.0745	likely_benign	0.0888	benign	-1.301	Destabilizing	0.003	N	0.467	neutral	None	None	None	None	N
L/T	0.0659	likely_benign	0.0762	benign	-1.233	Destabilizing	None	N	0.344	neutral	None	None	None	None	N
L/V	0.0525	likely_benign	0.0541	benign	-1.085	Destabilizing	None	N	0.145	neutral	N	0.480224975	None	None	N
L/W	0.1131	likely_benign	0.1276	benign	-1.331	Destabilizing	0.676	D	0.619	neutral	None	None	None	None	N
L/Y	0.1355	likely_benign	0.162	benign	-1.103	Destabilizing	0.12	N	0.573	neutral	None	None	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.