TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	25609	77050;77051;77052	chr2:178569307;178569306;178569305	chr2:179434034;179434033;179434032
N2AB	23968	72127;72128;72129	chr2:178569307;178569306;178569305	chr2:179434034;179434033;179434032
N2A	23041	69346;69347;69348	chr2:178569307;178569306;178569305	chr2:179434034;179434033;179434032
N2B	16544	49855;49856;49857	chr2:178569307;178569306;178569305	chr2:179434034;179434033;179434032
Novex-1	16669	50230;50231;50232	chr2:178569307;178569306;178569305	chr2:179434034;179434033;179434032
Novex-2	16736	50431;50432;50433	chr2:178569307;178569306;178569305	chr2:179434034;179434033;179434032
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: K
• RefSeq wild type transcript codon: AAA
• RefSeq wild type template codon: TTT
• Domain: Fn3-74
• Domain position: 9
• Structural Position: 11
• Q(SASA): 0.4486
• 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
K/R	None	None	None	N	0.193	0.067	0.162503812791	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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
K/A	0.2049	likely_benign	0.2436	benign	-0.308	Destabilizing	0.116	N	0.454	neutral	None	None	None	None	N
K/C	0.3831	ambiguous	0.4591	ambiguous	-0.417	Destabilizing	0.981	D	0.556	neutral	None	None	None	None	N
K/D	0.4801	ambiguous	0.5483	ambiguous	0.092	Stabilizing	0.242	N	0.511	neutral	None	None	None	None	N
K/E	0.1483	likely_benign	0.1719	benign	0.148	Stabilizing	None	N	0.271	neutral	N	0.462724306	None	None	N
K/F	0.5309	ambiguous	0.6244	pathogenic	-0.258	Destabilizing	0.471	N	0.573	neutral	None	None	None	None	N
K/G	0.3749	ambiguous	0.4433	ambiguous	-0.604	Destabilizing	0.39	N	0.556	neutral	None	None	None	None	N
K/H	0.1649	likely_benign	0.1843	benign	-0.975	Destabilizing	0.653	D	0.573	neutral	None	None	None	None	N
K/I	0.187	likely_benign	0.2262	benign	0.422	Stabilizing	0.007	N	0.584	neutral	N	0.47300508	None	None	N
K/L	0.2113	likely_benign	0.2552	benign	0.422	Stabilizing	None	N	0.405	neutral	None	None	None	None	N
K/M	0.1445	likely_benign	0.1665	benign	0.312	Stabilizing	0.007	N	0.383	neutral	None	None	None	None	N
K/N	0.276	likely_benign	0.3153	benign	-0.124	Destabilizing	0.325	N	0.493	neutral	N	0.477929378	None	None	N
K/P	0.8871	likely_pathogenic	0.9219	pathogenic	0.21	Stabilizing	0.819	D	0.618	neutral	None	None	None	None	N
K/Q	0.0911	likely_benign	0.0975	benign	-0.284	Destabilizing	0.028	N	0.481	neutral	N	0.463377667	None	None	N
K/R	0.0727	likely_benign	0.0758	benign	-0.356	Destabilizing	None	N	0.193	neutral	N	0.447850855	None	None	N
K/S	0.2537	likely_benign	0.2933	benign	-0.752	Destabilizing	0.116	N	0.431	neutral	None	None	None	None	N
K/T	0.0963	likely_benign	0.1051	benign	-0.512	Destabilizing	0.002	N	0.373	neutral	N	0.42893702	None	None	N
K/V	0.1693	likely_benign	0.2032	benign	0.21	Stabilizing	0.005	N	0.483	neutral	None	None	None	None	N
K/W	0.5688	likely_pathogenic	0.6593	pathogenic	-0.154	Destabilizing	0.987	D	0.59	neutral	None	None	None	None	N
K/Y	0.4471	ambiguous	0.5301	ambiguous	0.165	Stabilizing	0.392	N	0.568	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.