TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4819	14680;14681;14682	chr2:178735991;178735990;178735989	chr2:179600718;179600717;179600716
N2AB	4502	13729;13730;13731	chr2:178735991;178735990;178735989	chr2:179600718;179600717;179600716
N2A	3575	10948;10949;10950	chr2:178735991;178735990;178735989	chr2:179600718;179600717;179600716
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: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-31
• Domain position: 25
• Structural Position: 38
• Q(SASA): 0.4876
• 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
T/A	rs895286829	None	0.005	N	0.151	0.162	0.0482279557977	gnomAD-4.0.0	1.59144E-06	None	None	None	None	I	None	0	0	None	0	2.77423E-05	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
T/A	0.0686	likely_benign	0.0663	benign	-0.569	Destabilizing	0.005	N	0.151	neutral	N	0.45332359	None	None	I
T/C	0.3236	likely_benign	0.3101	benign	-0.304	Destabilizing	0.356	N	0.296	neutral	None	None	None	None	I
T/D	0.3187	likely_benign	0.277	benign	0.436	Stabilizing	0.038	N	0.267	neutral	None	None	None	None	I
T/E	0.2532	likely_benign	0.2307	benign	0.413	Stabilizing	0.016	N	0.273	neutral	None	None	None	None	I
T/F	0.1692	likely_benign	0.1532	benign	-0.79	Destabilizing	0.12	N	0.387	neutral	None	None	None	None	I
T/G	0.1781	likely_benign	0.1649	benign	-0.785	Destabilizing	0.016	N	0.261	neutral	None	None	None	None	I
T/H	0.2253	likely_benign	0.1906	benign	-1.033	Destabilizing	0.356	N	0.293	neutral	None	None	None	None	I
T/I	0.1361	likely_benign	0.1248	benign	-0.102	Destabilizing	0.004	N	0.273	neutral	N	0.399468892	None	None	I
T/K	0.1944	likely_benign	0.1713	benign	-0.362	Destabilizing	None	N	0.205	neutral	N	0.420227761	None	None	I
T/L	0.0791	likely_benign	0.075	benign	-0.102	Destabilizing	None	N	0.209	neutral	None	None	None	None	I
T/M	0.0802	likely_benign	0.0787	benign	0.047	Stabilizing	0.12	N	0.31	neutral	None	None	None	None	I
T/N	0.1162	likely_benign	0.0966	benign	-0.212	Destabilizing	0.038	N	0.157	neutral	None	None	None	None	I
T/P	0.3894	ambiguous	0.3623	ambiguous	-0.226	Destabilizing	0.055	N	0.355	neutral	N	0.508346146	None	None	I
T/Q	0.2023	likely_benign	0.1837	benign	-0.359	Destabilizing	0.072	N	0.343	neutral	None	None	None	None	I
T/R	0.1551	likely_benign	0.1345	benign	-0.186	Destabilizing	0.029	N	0.286	neutral	N	0.453581157	None	None	I
T/S	0.0761	likely_benign	0.0721	benign	-0.538	Destabilizing	None	N	0.083	neutral	N	0.348529046	None	None	I
T/V	0.1168	likely_benign	0.109	benign	-0.226	Destabilizing	None	N	0.117	neutral	None	None	None	None	I
T/W	0.4196	ambiguous	0.3877	ambiguous	-0.74	Destabilizing	0.864	D	0.294	neutral	None	None	None	None	I
T/Y	0.2013	likely_benign	0.1777	benign	-0.477	Destabilizing	0.356	N	0.359	neutral	None	None	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.