TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5676	17251;17252;17253	chr2:178731849;178731848;178731847	chr2:179596576;179596575;179596574
N2AB	5359	16300;16301;16302	chr2:178731849;178731848;178731847	chr2:179596576;179596575;179596574
N2A	4432	13519;13520;13521	chr2:178731849;178731848;178731847	chr2:179596576;179596575;179596574
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: I
• RefSeq wild type transcript codon: ATC
• RefSeq wild type template codon: TAG
• Domain: Ig-40
• Domain position: 40
• Structural Position: 56
• Q(SASA): 0.2673
• 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
I/N	None	None	0.014	N	0.442	0.087	0.223847106136	gnomAD-4.0.0	1.59132E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85853E-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
I/A	0.0886	likely_benign	0.0901	benign	-1.005	Destabilizing	0.002	N	0.253	neutral	None	None	None	None	N
I/C	0.3469	ambiguous	0.3706	ambiguous	-0.685	Destabilizing	0.245	N	0.352	neutral	None	None	None	None	N
I/D	0.3311	likely_benign	0.3218	benign	-0.033	Destabilizing	0.004	N	0.382	neutral	None	None	None	None	N
I/E	0.2524	likely_benign	0.2494	benign	-0.05	Destabilizing	None	N	0.211	neutral	None	None	None	None	N
I/F	0.1179	likely_benign	0.1227	benign	-0.634	Destabilizing	0.033	N	0.257	neutral	N	0.476819472	None	None	N
I/G	0.2511	likely_benign	0.2597	benign	-1.271	Destabilizing	0.008	N	0.377	neutral	None	None	None	None	N
I/H	0.2124	likely_benign	0.2198	benign	-0.409	Destabilizing	0.245	N	0.461	neutral	None	None	None	None	N
I/K	0.1683	likely_benign	0.1663	benign	-0.518	Destabilizing	0.004	N	0.37	neutral	None	None	None	None	N
I/L	0.0773	likely_benign	0.0824	benign	-0.383	Destabilizing	None	N	0.089	neutral	N	0.402687073	None	None	N
I/M	0.0728	likely_benign	0.0741	benign	-0.451	Destabilizing	0.033	N	0.318	neutral	N	0.457886995	None	None	N
I/N	0.0981	likely_benign	0.1021	benign	-0.364	Destabilizing	0.014	N	0.442	neutral	N	0.45736692	None	None	N
I/P	0.1384	likely_benign	0.1456	benign	-0.557	Destabilizing	None	N	0.206	neutral	None	None	None	None	N
I/Q	0.1541	likely_benign	0.1549	benign	-0.49	Destabilizing	0.001	N	0.239	neutral	None	None	None	None	N
I/R	0.1373	likely_benign	0.1393	benign	-0.033	Destabilizing	0.018	N	0.441	neutral	None	None	None	None	N
I/S	0.094	likely_benign	0.098	benign	-0.975	Destabilizing	0.003	N	0.287	neutral	N	0.415288224	None	None	N
I/T	0.0701	likely_benign	0.0746	benign	-0.87	Destabilizing	None	N	0.129	neutral	N	0.434836777	None	None	N
I/V	0.0612	likely_benign	0.0618	benign	-0.557	Destabilizing	None	N	0.085	neutral	N	0.437434365	None	None	N
I/W	0.5491	ambiguous	0.5596	ambiguous	-0.674	Destabilizing	0.497	N	0.431	neutral	None	None	None	None	N
I/Y	0.2536	likely_benign	0.2747	benign	-0.433	Destabilizing	0.085	N	0.405	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.