TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8743	26452;26453;26454	chr2:178714547;178714546;178714545	chr2:179579274;179579273;179579272
N2AB	8426	25501;25502;25503	chr2:178714547;178714546;178714545	chr2:179579274;179579273;179579272
N2A	7499	22720;22721;22722	chr2:178714547;178714546;178714545	chr2:179579274;179579273;179579272
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: S
• RefSeq wild type transcript codon: AGT
• RefSeq wild type template codon: TCA
• Domain: Ig-73
• Domain position: 8
• Structural Position: 9
• Q(SASA): 0.5594
• 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
S/G	rs997483780	None	0.008	N	0.234	0.198	0.199424873507	gnomAD-4.0.0	4.12439E-06	None	None	None	None	I	None	0	2.25317E-05	None	0	0	None	0	0	3.61209E-06	0	1.66495E-05
S/N	None	None	None	N	0.071	0.147	0.166414681773	gnomAD-4.0.0	1.60822E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.89382E-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
S/A	0.0739	likely_benign	0.0779	benign	-0.267	Destabilizing	None	N	0.255	neutral	None	None	None	None	I
S/C	0.1239	likely_benign	0.1592	benign	-0.374	Destabilizing	0.348	N	0.357	neutral	N	0.520183454	None	None	I
S/D	0.1737	likely_benign	0.2257	benign	0.296	Stabilizing	None	N	0.079	neutral	None	None	None	None	I
S/E	0.2463	likely_benign	0.2844	benign	0.206	Stabilizing	None	N	0.091	neutral	None	None	None	None	I
S/F	0.144	likely_benign	0.188	benign	-0.904	Destabilizing	0.412	N	0.404	neutral	None	None	None	None	I
S/G	0.0679	likely_benign	0.0812	benign	-0.364	Destabilizing	0.008	N	0.234	neutral	N	0.504027755	None	None	I
S/H	0.1844	likely_benign	0.2192	benign	-0.779	Destabilizing	0.001	N	0.215	neutral	None	None	None	None	I
S/I	0.1157	likely_benign	0.1503	benign	-0.147	Destabilizing	0.115	N	0.431	neutral	N	0.507902096	None	None	I
S/K	0.2946	likely_benign	0.3494	ambiguous	-0.376	Destabilizing	0.02	N	0.195	neutral	None	None	None	None	I
S/L	0.0828	likely_benign	0.0939	benign	-0.147	Destabilizing	0.047	N	0.404	neutral	None	None	None	None	I
S/M	0.1578	likely_benign	0.1751	benign	-0.113	Destabilizing	0.412	N	0.352	neutral	None	None	None	None	I
S/N	0.0751	likely_benign	0.0927	benign	-0.169	Destabilizing	None	N	0.071	neutral	N	0.491910981	None	None	I
S/P	0.1134	likely_benign	0.1552	benign	-0.159	Destabilizing	0.051	N	0.396	neutral	None	None	None	None	I
S/Q	0.2529	likely_benign	0.3022	benign	-0.365	Destabilizing	0.09	N	0.251	neutral	None	None	None	None	I
S/R	0.2359	likely_benign	0.3006	benign	-0.191	Destabilizing	0.069	N	0.395	neutral	N	0.480051779	None	None	I
S/T	0.0678	likely_benign	0.0714	benign	-0.264	Destabilizing	None	N	0.071	neutral	N	0.484909542	None	None	I
S/V	0.1284	likely_benign	0.1557	benign	-0.159	Destabilizing	0.018	N	0.391	neutral	None	None	None	None	I
S/W	0.2136	likely_benign	0.275	benign	-0.948	Destabilizing	0.89	D	0.413	neutral	None	None	None	None	I
S/Y	0.1336	likely_benign	0.1644	benign	-0.636	Destabilizing	0.257	N	0.42	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.