TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19905	59938;59939;59940	chr2:178592191;178592190;178592189	chr2:179456918;179456917;179456916
N2AB	18264	55015;55016;55017	chr2:178592191;178592190;178592189	chr2:179456918;179456917;179456916
N2A	17337	52234;52235;52236	chr2:178592191;178592190;178592189	chr2:179456918;179456917;179456916
N2B	10840	32743;32744;32745	chr2:178592191;178592190;178592189	chr2:179456918;179456917;179456916
Novex-1	10965	33118;33119;33120	chr2:178592191;178592190;178592189	chr2:179456918;179456917;179456916
Novex-2	11032	33319;33320;33321	chr2:178592191;178592190;178592189	chr2:179456918;179456917;179456916
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: Fn3-32
• Domain position: 29
• Structural Position: 31
• Q(SASA): 0.3749
• 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	0.829	0.678	0.415564226483	gnomAD-4.0.0	6.84778E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.99832E-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
G/A	0.9501	likely_pathogenic	0.9438	pathogenic	-0.28	Destabilizing	1.0	D	0.727	prob.delet.	N	0.519289222	None	None	I
G/C	0.9858	likely_pathogenic	0.9846	pathogenic	-0.817	Destabilizing	1.0	D	0.805	deleterious	D	0.53849634	None	None	I
G/D	0.9966	likely_pathogenic	0.9967	pathogenic	-0.465	Destabilizing	1.0	D	0.829	deleterious	D	0.52435165	None	None	I
G/E	0.9973	likely_pathogenic	0.9975	pathogenic	-0.628	Destabilizing	1.0	D	0.859	deleterious	None	None	None	None	I
G/F	0.9986	likely_pathogenic	0.9983	pathogenic	-1.074	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	I
G/H	0.9978	likely_pathogenic	0.9978	pathogenic	-0.579	Destabilizing	1.0	D	0.81	deleterious	None	None	None	None	I
G/I	0.9985	likely_pathogenic	0.9985	pathogenic	-0.408	Destabilizing	1.0	D	0.826	deleterious	None	None	None	None	I
G/K	0.9967	likely_pathogenic	0.9968	pathogenic	-0.651	Destabilizing	1.0	D	0.86	deleterious	None	None	None	None	I
G/L	0.9977	likely_pathogenic	0.9974	pathogenic	-0.408	Destabilizing	1.0	D	0.835	deleterious	None	None	None	None	I
G/M	0.9988	likely_pathogenic	0.9986	pathogenic	-0.332	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/N	0.9968	likely_pathogenic	0.9966	pathogenic	-0.301	Destabilizing	1.0	D	0.808	deleterious	None	None	None	None	I
G/P	0.9996	likely_pathogenic	0.9996	pathogenic	-0.332	Destabilizing	1.0	D	0.846	deleterious	None	None	None	None	I
G/Q	0.9969	likely_pathogenic	0.9968	pathogenic	-0.601	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	I
G/R	0.9879	likely_pathogenic	0.9883	pathogenic	-0.246	Destabilizing	1.0	D	0.847	deleterious	N	0.493525191	None	None	I
G/S	0.9483	likely_pathogenic	0.9459	pathogenic	-0.475	Destabilizing	1.0	D	0.798	deleterious	N	0.509463399	None	None	I
G/T	0.9944	likely_pathogenic	0.9947	pathogenic	-0.566	Destabilizing	1.0	D	0.859	deleterious	None	None	None	None	I
G/V	0.9966	likely_pathogenic	0.9966	pathogenic	-0.332	Destabilizing	1.0	D	0.836	deleterious	D	0.526633056	None	None	I
G/W	0.9963	likely_pathogenic	0.996	pathogenic	-1.22	Destabilizing	1.0	D	0.806	deleterious	None	None	None	None	I
G/Y	0.9981	likely_pathogenic	0.9978	pathogenic	-0.851	Destabilizing	1.0	D	0.807	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.