TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6870	20833;20834;20835	chr2:178725596;178725595;178725594	chr2:179590323;179590322;179590321
N2AB	6553	19882;19883;19884	chr2:178725596;178725595;178725594	chr2:179590323;179590322;179590321
N2A	5626	17101;17102;17103	chr2:178725596;178725595;178725594	chr2:179590323;179590322;179590321
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: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Ig-53
• Domain position: 17
• Structural Position: 26
• Q(SASA): 0.519
• 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
P/A	None	None	0.454	N	0.369	0.1	0.130388298395	gnomAD-4.0.0	1.59995E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.87249E-06	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
P/A	0.0626	likely_benign	0.0591	benign	-0.722	Destabilizing	0.454	N	0.369	neutral	N	0.470561851	None	None	N
P/C	0.4434	ambiguous	0.3928	ambiguous	-0.591	Destabilizing	0.998	D	0.377	neutral	None	None	None	None	N
P/D	0.2742	likely_benign	0.2443	benign	-0.696	Destabilizing	0.728	D	0.349	neutral	None	None	None	None	N
P/E	0.1877	likely_benign	0.1703	benign	-0.806	Destabilizing	0.067	N	0.201	neutral	None	None	None	None	N
P/F	0.3151	likely_benign	0.2621	benign	-0.853	Destabilizing	0.974	D	0.387	neutral	None	None	None	None	N
P/G	0.2265	likely_benign	0.198	benign	-0.889	Destabilizing	0.728	D	0.357	neutral	None	None	None	None	N
P/H	0.1493	likely_benign	0.1351	benign	-0.41	Destabilizing	0.028	N	0.264	neutral	N	0.462871364	None	None	N
P/I	0.218	likely_benign	0.1816	benign	-0.42	Destabilizing	0.974	D	0.405	neutral	None	None	None	None	N
P/K	0.1727	likely_benign	0.1575	benign	-0.663	Destabilizing	0.525	D	0.345	neutral	None	None	None	None	N
P/L	0.0925	likely_benign	0.0835	benign	-0.42	Destabilizing	0.801	D	0.389	neutral	N	0.508080089	None	None	N
P/M	0.2126	likely_benign	0.185	benign	-0.327	Destabilizing	0.991	D	0.347	neutral	None	None	None	None	N
P/N	0.2119	likely_benign	0.1831	benign	-0.337	Destabilizing	0.842	D	0.347	neutral	None	None	None	None	N
P/Q	0.1207	likely_benign	0.1111	benign	-0.633	Destabilizing	0.172	N	0.193	neutral	None	None	None	None	N
P/R	0.1201	likely_benign	0.1139	benign	-0.04	Destabilizing	0.801	D	0.378	neutral	N	0.491667842	None	None	N
P/S	0.0972	likely_benign	0.09	benign	-0.692	Destabilizing	0.051	N	0.191	neutral	N	0.437254567	None	None	N
P/T	0.0751	likely_benign	0.0719	benign	-0.708	Destabilizing	0.669	D	0.353	neutral	N	0.433387542	None	None	N
P/V	0.1521	likely_benign	0.1307	benign	-0.485	Destabilizing	0.842	D	0.381	neutral	None	None	None	None	N
P/W	0.4596	ambiguous	0.4106	ambiguous	-0.924	Destabilizing	0.998	D	0.441	neutral	None	None	None	None	N
P/Y	0.3032	likely_benign	0.2665	benign	-0.645	Destabilizing	0.949	D	0.409	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.