TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31218	93877;93878;93879	chr2:178547974;178547973;178547972	chr2:179412701;179412700;179412699
N2AB	29577	88954;88955;88956	chr2:178547974;178547973;178547972	chr2:179412701;179412700;179412699
N2A	28650	86173;86174;86175	chr2:178547974;178547973;178547972	chr2:179412701;179412700;179412699
N2B	22153	66682;66683;66684	chr2:178547974;178547973;178547972	chr2:179412701;179412700;179412699
Novex-1	22278	67057;67058;67059	chr2:178547974;178547973;178547972	chr2:179412701;179412700;179412699
Novex-2	22345	67258;67259;67260	chr2:178547974;178547973;178547972	chr2:179412701;179412700;179412699
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-151
• Domain position: 1
• Structural Position: 1
• Q(SASA): 0.6699
• 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/A	None	None	0.041	N	0.189	0.225	0.139678290688	gnomAD-4.0.0	1.5917E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43291E-05	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	0.0702	likely_benign	0.0699	benign	-0.334	Destabilizing	0.041	N	0.189	neutral	N	0.428582808	None	None	N
T/C	0.3097	likely_benign	0.2942	benign	-0.806	Destabilizing	0.944	D	0.314	neutral	None	None	None	None	N
T/D	0.2876	likely_benign	0.2952	benign	-0.377	Destabilizing	0.388	N	0.35	neutral	None	None	None	None	N
T/E	0.2296	likely_benign	0.2294	benign	-0.458	Destabilizing	0.241	N	0.347	neutral	None	None	None	None	N
T/F	0.2632	likely_benign	0.2725	benign	-1.011	Destabilizing	0.818	D	0.347	neutral	None	None	None	None	N
T/G	0.1562	likely_benign	0.1543	benign	-0.332	Destabilizing	0.116	N	0.297	neutral	None	None	None	None	N
T/H	0.1831	likely_benign	0.187	benign	-0.338	Destabilizing	0.818	D	0.322	neutral	None	None	None	None	N
T/I	0.2006	likely_benign	0.2096	benign	-0.435	Destabilizing	0.324	N	0.354	neutral	N	0.429622958	None	None	N
T/K	0.1525	likely_benign	0.1501	benign	-0.617	Destabilizing	0.241	N	0.345	neutral	None	None	None	None	N
T/L	0.1007	likely_benign	0.1039	benign	-0.435	Destabilizing	0.388	N	0.347	neutral	None	None	None	None	N
T/M	0.0972	likely_benign	0.101	benign	-0.566	Destabilizing	0.932	D	0.311	neutral	None	None	None	None	N
T/N	0.1035	likely_benign	0.1046	benign	-0.523	Destabilizing	0.193	N	0.301	neutral	N	0.429102883	None	None	N
T/P	0.2817	likely_benign	0.3296	benign	-0.386	Destabilizing	0.492	N	0.341	neutral	N	0.4294496	None	None	N
T/Q	0.1617	likely_benign	0.1668	benign	-0.65	Destabilizing	0.69	D	0.33	neutral	None	None	None	None	N
T/R	0.1225	likely_benign	0.1185	benign	-0.343	Destabilizing	0.69	D	0.349	neutral	None	None	None	None	N
T/S	0.0739	likely_benign	0.0696	benign	-0.668	Destabilizing	None	N	0.127	neutral	N	0.426849225	None	None	N
T/V	0.1593	likely_benign	0.1622	benign	-0.386	Destabilizing	0.388	N	0.289	neutral	None	None	None	None	N
T/W	0.4607	ambiguous	0.4583	ambiguous	-1.129	Destabilizing	0.981	D	0.363	neutral	None	None	None	None	N
T/Y	0.2395	likely_benign	0.2277	benign	-0.844	Destabilizing	0.818	D	0.329	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.