TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7688	23287;23288;23289	chr2:178720957;178720956;178720955	chr2:179585684;179585683;179585682
N2AB	7371	22336;22337;22338	chr2:178720957;178720956;178720955	chr2:179585684;179585683;179585682
N2A	6444	19555;19556;19557	chr2:178720957;178720956;178720955	chr2:179585684;179585683;179585682
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: G
• RefSeq wild type transcript codon: GGT
• RefSeq wild type template codon: CCA
• Domain: Ig-61
• Domain position: 81
• Structural Position: 164
• Q(SASA): 0.2072
• 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/D	None	None	1.0	D	0.863	0.549	0.610541524961	gnomAD-4.0.0	1.62351E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.94227E-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	0.7136	likely_pathogenic	0.8303	pathogenic	-0.376	Destabilizing	1.0	D	0.746	deleterious	D	0.607801272	None	None	I
G/C	0.9366	likely_pathogenic	0.9713	pathogenic	-0.866	Destabilizing	1.0	D	0.809	deleterious	D	0.657302345	None	None	I
G/D	0.9196	likely_pathogenic	0.9651	pathogenic	-0.878	Destabilizing	1.0	D	0.863	deleterious	D	0.607397663	None	None	I
G/E	0.9548	likely_pathogenic	0.9795	pathogenic	-1.054	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	I
G/F	0.9874	likely_pathogenic	0.9932	pathogenic	-1.164	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	I
G/H	0.9812	likely_pathogenic	0.9926	pathogenic	-0.638	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	I
G/I	0.9833	likely_pathogenic	0.9916	pathogenic	-0.555	Destabilizing	1.0	D	0.848	deleterious	None	None	None	None	I
G/K	0.9788	likely_pathogenic	0.9918	pathogenic	-0.943	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	I
G/L	0.979	likely_pathogenic	0.9885	pathogenic	-0.555	Destabilizing	1.0	D	0.841	deleterious	None	None	None	None	I
G/M	0.9849	likely_pathogenic	0.9923	pathogenic	-0.485	Destabilizing	1.0	D	0.809	deleterious	None	None	None	None	I
G/N	0.9566	likely_pathogenic	0.9806	pathogenic	-0.545	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	I
G/P	0.9966	likely_pathogenic	0.9979	pathogenic	-0.464	Destabilizing	1.0	D	0.866	deleterious	None	None	None	None	I
G/Q	0.9636	likely_pathogenic	0.9842	pathogenic	-0.883	Destabilizing	1.0	D	0.864	deleterious	None	None	None	None	I
G/R	0.9383	likely_pathogenic	0.9752	pathogenic	-0.427	Destabilizing	1.0	D	0.871	deleterious	D	0.624022437	None	None	I
G/S	0.5844	likely_pathogenic	0.7518	pathogenic	-0.634	Destabilizing	1.0	D	0.807	deleterious	D	0.597677108	None	None	I
G/T	0.8951	likely_pathogenic	0.9469	pathogenic	-0.755	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	I
G/V	0.96	likely_pathogenic	0.9798	pathogenic	-0.464	Destabilizing	1.0	D	0.844	deleterious	D	0.656898737	None	None	I
G/W	0.9655	likely_pathogenic	0.9836	pathogenic	-1.297	Destabilizing	1.0	D	0.816	deleterious	None	None	None	None	I
G/Y	0.9798	likely_pathogenic	0.9917	pathogenic	-0.97	Destabilizing	1.0	D	0.842	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.