TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31172	93739;93740;93741	chr2:178548112;178548111;178548110	chr2:179412839;179412838;179412837
N2AB	29531	88816;88817;88818	chr2:178548112;178548111;178548110	chr2:179412839;179412838;179412837
N2A	28604	86035;86036;86037	chr2:178548112;178548111;178548110	chr2:179412839;179412838;179412837
N2B	22107	66544;66545;66546	chr2:178548112;178548111;178548110	chr2:179412839;179412838;179412837
Novex-1	22232	66919;66920;66921	chr2:178548112;178548111;178548110	chr2:179412839;179412838;179412837
Novex-2	22299	67120;67121;67122	chr2:178548112;178548111;178548110	chr2:179412839;179412838;179412837
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: Fn3-115
• Domain position: 60
• Structural Position: 92
• Q(SASA): 0.2958
• 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/I	None	None	0.704	N	0.464	0.331	0.459100921832	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
T/R	None	None	0.996	N	0.557	0.405	0.701366418672	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
T/A	0.0767	likely_benign	0.0822	benign	-0.731	Destabilizing	0.826	D	0.467	neutral	N	0.474592151	None	None	N
T/C	0.2711	likely_benign	0.3052	benign	-0.443	Destabilizing	0.999	D	0.53	neutral	None	None	None	None	N
T/D	0.4018	ambiguous	0.4402	ambiguous	0.424	Stabilizing	0.997	D	0.551	neutral	None	None	None	None	N
T/E	0.2671	likely_benign	0.2873	benign	0.421	Stabilizing	0.997	D	0.533	neutral	None	None	None	None	N
T/F	0.2126	likely_benign	0.2398	benign	-0.921	Destabilizing	0.982	D	0.61	neutral	None	None	None	None	N
T/G	0.2749	likely_benign	0.2937	benign	-0.962	Destabilizing	0.99	D	0.565	neutral	None	None	None	None	N
T/H	0.1818	likely_benign	0.2055	benign	-1.165	Destabilizing	0.999	D	0.589	neutral	None	None	None	None	N
T/I	0.1022	likely_benign	0.1153	benign	-0.215	Destabilizing	0.704	D	0.464	neutral	N	0.47243933	None	None	N
T/K	0.1629	likely_benign	0.1786	benign	-0.407	Destabilizing	0.986	D	0.523	neutral	N	0.505979225	None	None	N
T/L	0.083	likely_benign	0.0922	benign	-0.215	Destabilizing	0.02	N	0.267	neutral	None	None	None	None	N
T/M	0.0856	likely_benign	0.0884	benign	-0.105	Destabilizing	0.982	D	0.559	neutral	None	None	None	None	N
T/N	0.1249	likely_benign	0.1417	benign	-0.354	Destabilizing	0.997	D	0.511	neutral	None	None	None	None	N
T/P	0.125	likely_benign	0.1428	benign	-0.355	Destabilizing	0.996	D	0.561	neutral	N	0.476264445	None	None	N
T/Q	0.1805	likely_benign	0.1956	benign	-0.458	Destabilizing	0.997	D	0.558	neutral	None	None	None	None	N
T/R	0.1326	likely_benign	0.139	benign	-0.247	Destabilizing	0.996	D	0.557	neutral	N	0.511790477	None	None	N
T/S	0.1101	likely_benign	0.1176	benign	-0.7	Destabilizing	0.959	D	0.435	neutral	N	0.480339369	None	None	N
T/V	0.0877	likely_benign	0.0947	benign	-0.355	Destabilizing	0.17	N	0.219	neutral	None	None	None	None	N
T/W	0.5266	ambiguous	0.5579	ambiguous	-0.86	Destabilizing	0.999	D	0.623	neutral	None	None	None	None	N
T/Y	0.2444	likely_benign	0.2772	benign	-0.599	Destabilizing	0.997	D	0.607	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.