TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14650	44173;44174;44175	chr2:178631100;178631099;178631098	chr2:179495827;179495826;179495825
N2AB	13009	39250;39251;39252	chr2:178631100;178631099;178631098	chr2:179495827;179495826;179495825
N2A	12082	36469;36470;36471	chr2:178631100;178631099;178631098	chr2:179495827;179495826;179495825
N2B	5585	16978;16979;16980	chr2:178631100;178631099;178631098	chr2:179495827;179495826;179495825
Novex-1	5710	17353;17354;17355	chr2:178631100;178631099;178631098	chr2:179495827;179495826;179495825
Novex-2	5777	17554;17555;17556	chr2:178631100;178631099;178631098	chr2:179495827;179495826;179495825
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCA
• RefSeq wild type template codon: AGT
• Domain: Ig-97
• Domain position: 65
• Structural Position: 148
• Q(SASA): 0.4855
• 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
S/L	None	None	0.801	N	0.379	0.173	0.3349148499	gnomAD-4.0.0	1.59224E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43303E-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
S/A	0.0758	likely_benign	0.0753	benign	-0.222	Destabilizing	0.454	N	0.387	neutral	N	0.452612593	None	None	N
S/C	0.1965	likely_benign	0.1813	benign	-0.392	Destabilizing	0.998	D	0.414	neutral	None	None	None	None	N
S/D	0.2267	likely_benign	0.2065	benign	0.147	Stabilizing	0.842	D	0.338	neutral	None	None	None	None	N
S/E	0.2968	likely_benign	0.2761	benign	0.044	Stabilizing	0.728	D	0.314	neutral	None	None	None	None	N
S/F	0.2655	likely_benign	0.2648	benign	-0.941	Destabilizing	0.991	D	0.48	neutral	None	None	None	None	N
S/G	0.0875	likely_benign	0.0766	benign	-0.28	Destabilizing	0.007	N	0.177	neutral	None	None	None	None	N
S/H	0.2984	likely_benign	0.2859	benign	-0.619	Destabilizing	0.998	D	0.369	neutral	None	None	None	None	N
S/I	0.1828	likely_benign	0.1732	benign	-0.202	Destabilizing	0.974	D	0.475	neutral	None	None	None	None	N
S/K	0.3753	ambiguous	0.3386	benign	-0.407	Destabilizing	0.016	N	0.197	neutral	None	None	None	None	N
S/L	0.1166	likely_benign	0.1171	benign	-0.202	Destabilizing	0.801	D	0.379	neutral	N	0.486917095	None	None	N
S/M	0.2116	likely_benign	0.2031	benign	-0.163	Destabilizing	0.998	D	0.371	neutral	None	None	None	None	N
S/N	0.0964	likely_benign	0.0876	benign	-0.208	Destabilizing	0.842	D	0.401	neutral	None	None	None	None	N
S/P	0.1275	likely_benign	0.1576	benign	-0.183	Destabilizing	0.966	D	0.357	neutral	D	0.528602013	None	None	N
S/Q	0.3679	ambiguous	0.3525	ambiguous	-0.411	Destabilizing	0.949	D	0.349	neutral	None	None	None	None	N
S/R	0.3746	ambiguous	0.3342	benign	-0.168	Destabilizing	0.904	D	0.329	neutral	None	None	None	None	N
S/T	0.0834	likely_benign	0.0798	benign	-0.315	Destabilizing	0.801	D	0.365	neutral	N	0.453766363	None	None	N
S/V	0.1976	likely_benign	0.1874	benign	-0.183	Destabilizing	0.974	D	0.401	neutral	None	None	None	None	N
S/W	0.3528	ambiguous	0.3392	benign	-1.018	Destabilizing	0.998	D	0.608	neutral	None	None	None	None	N
S/Y	0.2091	likely_benign	0.2028	benign	-0.705	Destabilizing	0.991	D	0.476	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.