TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6294	19105;19106;19107	chr2:178729158;178729157;178729156	chr2:179593885;179593884;179593883
N2AB	5977	18154;18155;18156	chr2:178729158;178729157;178729156	chr2:179593885;179593884;179593883
N2A	5050	15373;15374;15375	chr2:178729158;178729157;178729156	chr2:179593885;179593884;179593883
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: F
• RefSeq wild type transcript codon: TTC
• RefSeq wild type template codon: AAG
• Domain: Ig-47
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.1421
• 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
F/L	rs953595241	None	0.999	N	0.683	0.661	0.3349148499	gnomAD-4.0.0	6.9862E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.11281E-07	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
F/A	0.9907	likely_pathogenic	0.9896	pathogenic	-2.728	Highly Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	N
F/C	0.9625	likely_pathogenic	0.9578	pathogenic	-1.802	Destabilizing	1.0	D	0.847	deleterious	D	0.573822472	None	None	N
F/D	0.9979	likely_pathogenic	0.9979	pathogenic	-2.474	Highly Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	N
F/E	0.9982	likely_pathogenic	0.9981	pathogenic	-2.406	Highly Destabilizing	1.0	D	0.871	deleterious	None	None	None	None	N
F/G	0.9966	likely_pathogenic	0.996	pathogenic	-3.041	Highly Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	N
F/H	0.9838	likely_pathogenic	0.9842	pathogenic	-1.288	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	N
F/I	0.7234	likely_pathogenic	0.7148	pathogenic	-1.758	Destabilizing	1.0	D	0.776	deleterious	N	0.498053501	None	None	N
F/K	0.9979	likely_pathogenic	0.9978	pathogenic	-1.471	Destabilizing	1.0	D	0.871	deleterious	None	None	None	None	N
F/L	0.9843	likely_pathogenic	0.9814	pathogenic	-1.758	Destabilizing	0.999	D	0.683	prob.neutral	N	0.518340711	None	None	N
F/M	0.9358	likely_pathogenic	0.929	pathogenic	-1.579	Destabilizing	1.0	D	0.79	deleterious	None	None	None	None	N
F/N	0.9923	likely_pathogenic	0.9921	pathogenic	-1.515	Destabilizing	1.0	D	0.872	deleterious	None	None	None	None	N
F/P	0.9987	likely_pathogenic	0.9985	pathogenic	-2.08	Highly Destabilizing	1.0	D	0.875	deleterious	None	None	None	None	N
F/Q	0.9963	likely_pathogenic	0.9962	pathogenic	-1.772	Destabilizing	1.0	D	0.873	deleterious	None	None	None	None	N
F/R	0.9932	likely_pathogenic	0.9929	pathogenic	-0.656	Destabilizing	1.0	D	0.871	deleterious	None	None	None	None	N
F/S	0.9885	likely_pathogenic	0.9869	pathogenic	-2.243	Highly Destabilizing	1.0	D	0.859	deleterious	D	0.573315493	None	None	N
F/T	0.9913	likely_pathogenic	0.9903	pathogenic	-2.081	Highly Destabilizing	1.0	D	0.857	deleterious	None	None	None	None	N
F/V	0.7975	likely_pathogenic	0.7851	pathogenic	-2.08	Highly Destabilizing	1.0	D	0.765	deleterious	D	0.526961538	None	None	N
F/W	0.9093	likely_pathogenic	0.9079	pathogenic	-0.79	Destabilizing	1.0	D	0.789	deleterious	None	None	None	None	N
F/Y	0.6753	likely_pathogenic	0.6674	pathogenic	-0.975	Destabilizing	0.999	D	0.607	neutral	D	0.555464728	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.