TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5180	15763;15764;15765	chr2:178733851;178733850;178733849	chr2:179598578;179598577;179598576
N2AB	4863	14812;14813;14814	chr2:178733851;178733850;178733849	chr2:179598578;179598577;179598576
N2A	3936	12031;12032;12033	chr2:178733851;178733850;178733849	chr2:179598578;179598577;179598576
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: L
• RefSeq wild type transcript codon: CTA
• RefSeq wild type template codon: GAT
• Domain: Ig-35
• Domain position: 13
• Structural Position: 18
• Q(SASA): 0.6261
• 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
L/V	None	None	0.046	N	0.225	0.084	0.318540980066	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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
L/A	0.1205	likely_benign	0.1419	benign	-0.614	Destabilizing	0.919	D	0.531	neutral	None	None	None	None	I
L/C	0.4555	ambiguous	0.5262	ambiguous	-0.749	Destabilizing	0.999	D	0.534	neutral	None	None	None	None	I
L/D	0.4337	ambiguous	0.5161	ambiguous	-0.023	Destabilizing	0.996	D	0.644	neutral	None	None	None	None	I
L/E	0.1967	likely_benign	0.2408	benign	-0.095	Destabilizing	0.996	D	0.645	neutral	None	None	None	None	I
L/F	0.0885	likely_benign	0.1054	benign	-0.51	Destabilizing	0.976	D	0.461	neutral	None	None	None	None	I
L/G	0.32	likely_benign	0.3994	ambiguous	-0.792	Destabilizing	0.996	D	0.64	neutral	None	None	None	None	I
L/H	0.167	likely_benign	0.1961	benign	-0.022	Destabilizing	0.999	D	0.679	prob.neutral	None	None	None	None	I
L/I	0.0735	likely_benign	0.0771	benign	-0.261	Destabilizing	0.026	N	0.234	neutral	N	0.491176686	None	None	I
L/K	0.1924	likely_benign	0.222	benign	-0.387	Destabilizing	0.988	D	0.616	neutral	None	None	None	None	I
L/M	0.1008	likely_benign	0.1109	benign	-0.432	Destabilizing	0.976	D	0.447	neutral	None	None	None	None	I
L/N	0.2328	likely_benign	0.2813	benign	-0.256	Destabilizing	0.996	D	0.648	neutral	None	None	None	None	I
L/P	0.1405	likely_benign	0.1709	benign	-0.346	Destabilizing	0.995	D	0.645	neutral	N	0.512009505	None	None	I
L/Q	0.112	likely_benign	0.1264	benign	-0.432	Destabilizing	0.995	D	0.618	neutral	N	0.500373299	None	None	I
L/R	0.1364	likely_benign	0.1548	benign	0.129	Stabilizing	0.995	D	0.617	neutral	N	0.496435469	None	None	I
L/S	0.1276	likely_benign	0.1552	benign	-0.749	Destabilizing	0.988	D	0.581	neutral	None	None	None	None	I
L/T	0.1011	likely_benign	0.1205	benign	-0.708	Destabilizing	0.919	D	0.521	neutral	None	None	None	None	I
L/V	0.0704	likely_benign	0.0757	benign	-0.346	Destabilizing	0.046	N	0.225	neutral	N	0.456686595	None	None	I
L/W	0.189	likely_benign	0.2234	benign	-0.53	Destabilizing	0.999	D	0.685	prob.neutral	None	None	None	None	I
L/Y	0.2611	likely_benign	0.3211	benign	-0.289	Destabilizing	0.996	D	0.493	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.