TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8172	24739;24740;24741	chr2:178718592;178718591;178718590	chr2:179583319;179583318;179583317
N2AB	7855	23788;23789;23790	chr2:178718592;178718591;178718590	chr2:179583319;179583318;179583317
N2A	6928	21007;21008;21009	chr2:178718592;178718591;178718590	chr2:179583319;179583318;179583317
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: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-67
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.417
• 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
T/S	None	None	0.001	N	0.119	0.071	0.136095386433	gnomAD-4.0.0	2.74036E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.60183E-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
T/A	0.0703	likely_benign	0.0663	benign	-1.101	Destabilizing	None	N	0.101	neutral	N	0.48482288	None	None	N
T/C	0.3528	ambiguous	0.2876	benign	-0.632	Destabilizing	0.883	D	0.299	neutral	None	None	None	None	N
T/D	0.3556	ambiguous	0.3335	benign	0.121	Stabilizing	0.22	N	0.289	neutral	None	None	None	None	N
T/E	0.2296	likely_benign	0.2177	benign	0.182	Stabilizing	0.104	N	0.297	neutral	None	None	None	None	N
T/F	0.1728	likely_benign	0.1562	benign	-1.145	Destabilizing	0.497	N	0.329	neutral	None	None	None	None	N
T/G	0.2354	likely_benign	0.2066	benign	-1.396	Destabilizing	0.055	N	0.266	neutral	None	None	None	None	N
T/H	0.1653	likely_benign	0.1514	benign	-1.489	Destabilizing	0.859	D	0.302	neutral	None	None	None	None	N
T/I	0.0993	likely_benign	0.0951	benign	-0.386	Destabilizing	0.096	N	0.293	neutral	N	0.521226397	None	None	N
T/K	0.1086	likely_benign	0.1003	benign	-0.383	Destabilizing	0.002	N	0.182	neutral	None	None	None	None	N
T/L	0.0816	likely_benign	0.0756	benign	-0.386	Destabilizing	0.055	N	0.323	neutral	None	None	None	None	N
T/M	0.0831	likely_benign	0.0804	benign	-0.228	Destabilizing	0.667	D	0.307	neutral	None	None	None	None	N
T/N	0.1131	likely_benign	0.1095	benign	-0.538	Destabilizing	0.175	N	0.203	neutral	N	0.482414327	None	None	N
T/P	0.4815	ambiguous	0.4448	ambiguous	-0.593	Destabilizing	0.301	N	0.345	neutral	N	0.498316536	None	None	N
T/Q	0.1464	likely_benign	0.1396	benign	-0.579	Destabilizing	0.22	N	0.352	neutral	None	None	None	None	N
T/R	0.0831	likely_benign	0.0768	benign	-0.288	Destabilizing	0.001	N	0.219	neutral	None	None	None	None	N
T/S	0.0977	likely_benign	0.093	benign	-0.956	Destabilizing	0.001	N	0.119	neutral	N	0.499560259	None	None	N
T/V	0.0865	likely_benign	0.0811	benign	-0.593	Destabilizing	0.001	N	0.127	neutral	None	None	None	None	N
T/W	0.5269	ambiguous	0.4887	ambiguous	-1.032	Destabilizing	0.958	D	0.343	neutral	None	None	None	None	N
T/Y	0.2204	likely_benign	0.1985	benign	-0.767	Destabilizing	0.667	D	0.33	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.