TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29763	89512;89513;89514	chr2:178553718;178553717;178553716	chr2:179418445;179418444;179418443
N2AB	28122	84589;84590;84591	chr2:178553718;178553717;178553716	chr2:179418445;179418444;179418443
N2A	27195	81808;81809;81810	chr2:178553718;178553717;178553716	chr2:179418445;179418444;179418443
N2B	20698	62317;62318;62319	chr2:178553718;178553717;178553716	chr2:179418445;179418444;179418443
Novex-1	20823	62692;62693;62694	chr2:178553718;178553717;178553716	chr2:179418445;179418444;179418443
Novex-2	20890	62893;62894;62895	chr2:178553718;178553717;178553716	chr2:179418445;179418444;179418443
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Fn3-105
• Domain position: 30
• Structural Position: 32
• Q(SASA): 0.5061
• 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
G/V	None	None	1.0	D	0.802	0.578	0.887420146159	gnomAD-4.0.0	1.5915E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.8586E-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
G/A	0.7877	likely_pathogenic	0.7897	pathogenic	-0.233	Destabilizing	1.0	D	0.619	neutral	N	0.475869144	None	None	I
G/C	0.8458	likely_pathogenic	0.847	pathogenic	-0.929	Destabilizing	1.0	D	0.797	deleterious	D	0.528184127	None	None	I
G/D	0.9182	likely_pathogenic	0.9295	pathogenic	-0.275	Destabilizing	1.0	D	0.717	prob.delet.	N	0.490961659	None	None	I
G/E	0.9451	likely_pathogenic	0.955	pathogenic	-0.431	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	I
G/F	0.9722	likely_pathogenic	0.975	pathogenic	-0.945	Destabilizing	1.0	D	0.789	deleterious	None	None	None	None	I
G/H	0.9517	likely_pathogenic	0.96	pathogenic	-0.313	Destabilizing	1.0	D	0.789	deleterious	None	None	None	None	I
G/I	0.9626	likely_pathogenic	0.9638	pathogenic	-0.448	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	I
G/K	0.9406	likely_pathogenic	0.9576	pathogenic	-0.555	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	I
G/L	0.9586	likely_pathogenic	0.9566	pathogenic	-0.448	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	I
G/M	0.9676	likely_pathogenic	0.9689	pathogenic	-0.566	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	I
G/N	0.8711	likely_pathogenic	0.8934	pathogenic	-0.296	Destabilizing	1.0	D	0.699	prob.neutral	None	None	None	None	I
G/P	0.9962	likely_pathogenic	0.996	pathogenic	-0.349	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	I
G/Q	0.9193	likely_pathogenic	0.9356	pathogenic	-0.54	Destabilizing	1.0	D	0.816	deleterious	None	None	None	None	I
G/R	0.8858	likely_pathogenic	0.9061	pathogenic	-0.166	Destabilizing	1.0	D	0.818	deleterious	N	0.489569307	None	None	I
G/S	0.6127	likely_pathogenic	0.6404	pathogenic	-0.483	Destabilizing	1.0	D	0.707	prob.neutral	N	0.481843398	None	None	I
G/T	0.898	likely_pathogenic	0.9155	pathogenic	-0.562	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	I
G/V	0.9463	likely_pathogenic	0.9479	pathogenic	-0.349	Destabilizing	1.0	D	0.802	deleterious	D	0.527170169	None	None	I
G/W	0.9611	likely_pathogenic	0.9622	pathogenic	-1.052	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	I
G/Y	0.9519	likely_pathogenic	0.956	pathogenic	-0.726	Destabilizing	1.0	D	0.779	deleterious	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.