TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5534	16825;16826;16827	chr2:178732461;178732460;178732459	chr2:179597188;179597187;179597186
N2AB	5217	15874;15875;15876	chr2:178732461;178732460;178732459	chr2:179597188;179597187;179597186
N2A	4290	13093;13094;13095	chr2:178732461;178732460;178732459	chr2:179597188;179597187;179597186
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: S
• RefSeq wild type transcript codon: AGT
• RefSeq wild type template codon: TCA
• Domain: Ig-38
• Domain position: 85
• Structural Position: 171
• Q(SASA): 0.3618
• 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/G	None	None	0.549	N	0.473	0.277	0.426551566703	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
S/A	0.0826	likely_benign	0.0861	benign	-0.474	Destabilizing	0.127	N	0.361	neutral	None	None	None	None	N
S/C	0.15	likely_benign	0.1588	benign	-0.306	Destabilizing	0.99	D	0.551	neutral	D	0.528185625	None	None	N
S/D	0.3299	likely_benign	0.3618	ambiguous	-0.639	Destabilizing	0.617	D	0.491	neutral	None	None	None	None	N
S/E	0.385	ambiguous	0.4212	ambiguous	-0.694	Destabilizing	0.617	D	0.484	neutral	None	None	None	None	N
S/F	0.1513	likely_benign	0.1622	benign	-0.875	Destabilizing	0.92	D	0.641	neutral	None	None	None	None	N
S/G	0.1144	likely_benign	0.1206	benign	-0.663	Destabilizing	0.549	D	0.473	neutral	N	0.490709667	None	None	N
S/H	0.2969	likely_benign	0.312	benign	-1.305	Destabilizing	0.992	D	0.553	neutral	None	None	None	None	N
S/I	0.1508	likely_benign	0.1619	benign	-0.093	Destabilizing	0.379	N	0.596	neutral	D	0.526384288	None	None	N
S/K	0.4972	ambiguous	0.5235	ambiguous	-0.822	Destabilizing	0.617	D	0.481	neutral	None	None	None	None	N
S/L	0.0965	likely_benign	0.1028	benign	-0.093	Destabilizing	0.25	N	0.556	neutral	None	None	None	None	N
S/M	0.1917	likely_benign	0.2022	benign	0.341	Stabilizing	0.92	D	0.566	neutral	None	None	None	None	N
S/N	0.1424	likely_benign	0.1455	benign	-0.654	Destabilizing	0.549	D	0.526	neutral	D	0.525690855	None	None	N
S/P	0.2851	likely_benign	0.2897	benign	-0.188	Destabilizing	0.92	D	0.573	neutral	None	None	None	None	N
S/Q	0.3957	ambiguous	0.4207	ambiguous	-0.919	Destabilizing	0.92	D	0.515	neutral	None	None	None	None	N
S/R	0.4001	ambiguous	0.4173	ambiguous	-0.597	Destabilizing	0.81	D	0.578	neutral	D	0.526690932	None	None	N
S/T	0.0684	likely_benign	0.068	benign	-0.625	Destabilizing	0.001	N	0.229	neutral	N	0.426796084	None	None	N
S/V	0.1498	likely_benign	0.1611	benign	-0.188	Destabilizing	0.005	N	0.463	neutral	None	None	None	None	N
S/W	0.317	likely_benign	0.3382	benign	-0.894	Destabilizing	0.992	D	0.681	prob.neutral	None	None	None	None	N
S/Y	0.1799	likely_benign	0.191	benign	-0.628	Destabilizing	0.92	D	0.641	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.