TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5371	16336;16337;16338	chr2:178733065;178733064;178733063	chr2:179597792;179597791;179597790
N2AB	5054	15385;15386;15387	chr2:178733065;178733064;178733063	chr2:179597792;179597791;179597790
N2A	4127	12604;12605;12606	chr2:178733065;178733064;178733063	chr2:179597792;179597791;179597790
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: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-37
• Domain position: 15
• Structural Position: 24
• Q(SASA): 0.8311
• 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
N/I	None	None	0.171	N	0.565	0.184	0.428747304603	gnomAD-4.0.0	1.5961E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.86709E-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
N/A	0.1057	likely_benign	0.1036	benign	-0.167	Destabilizing	0.007	N	0.383	neutral	None	None	None	None	I
N/C	0.1894	likely_benign	0.1762	benign	0.273	Stabilizing	0.676	D	0.572	neutral	None	None	None	None	I
N/D	0.0841	likely_benign	0.0788	benign	0.255	Stabilizing	0.012	N	0.374	neutral	N	0.445784489	None	None	I
N/E	0.1912	likely_benign	0.185	benign	0.208	Stabilizing	0.016	N	0.328	neutral	None	None	None	None	I
N/F	0.2813	likely_benign	0.2827	benign	-0.637	Destabilizing	0.356	N	0.577	neutral	None	None	None	None	I
N/G	0.0849	likely_benign	0.0813	benign	-0.305	Destabilizing	None	N	0.147	neutral	None	None	None	None	I
N/H	0.0862	likely_benign	0.0825	benign	-0.3	Destabilizing	0.295	N	0.433	neutral	N	0.500851125	None	None	I
N/I	0.2058	likely_benign	0.2159	benign	0.101	Stabilizing	0.171	N	0.565	neutral	N	0.495607511	None	None	I
N/K	0.1469	likely_benign	0.1471	benign	0.179	Stabilizing	0.012	N	0.328	neutral	N	0.50033105	None	None	I
N/L	0.1472	likely_benign	0.1474	benign	0.101	Stabilizing	0.072	N	0.528	neutral	None	None	None	None	I
N/M	0.2198	likely_benign	0.2236	benign	0.256	Stabilizing	0.628	D	0.559	neutral	None	None	None	None	I
N/P	0.3705	ambiguous	0.3715	ambiguous	0.037	Stabilizing	0.072	N	0.532	neutral	None	None	None	None	I
N/Q	0.1726	likely_benign	0.1678	benign	-0.245	Destabilizing	0.072	N	0.374	neutral	None	None	None	None	I
N/R	0.1471	likely_benign	0.149	benign	0.23	Stabilizing	0.072	N	0.379	neutral	None	None	None	None	I
N/S	0.0521	likely_benign	0.0516	benign	-0.04	Destabilizing	None	N	0.153	neutral	N	0.470701577	None	None	I
N/T	0.0836	likely_benign	0.0851	benign	0.047	Stabilizing	0.012	N	0.344	neutral	N	0.487748542	None	None	I
N/V	0.2025	likely_benign	0.2031	benign	0.037	Stabilizing	0.072	N	0.559	neutral	None	None	None	None	I
N/W	0.4141	ambiguous	0.4202	ambiguous	-0.691	Destabilizing	0.864	D	0.57	neutral	None	None	None	None	I
N/Y	0.103	likely_benign	0.1016	benign	-0.389	Destabilizing	0.295	N	0.555	neutral	N	0.51368435	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.