TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17841	53746;53747;53748	chr2:178607081;178607080;178607079	chr2:179471808;179471807;179471806
N2AB	16200	48823;48824;48825	chr2:178607081;178607080;178607079	chr2:179471808;179471807;179471806
N2A	15273	46042;46043;46044	chr2:178607081;178607080;178607079	chr2:179471808;179471807;179471806
N2B	8776	26551;26552;26553	chr2:178607081;178607080;178607079	chr2:179471808;179471807;179471806
Novex-1	8901	26926;26927;26928	chr2:178607081;178607080;178607079	chr2:179471808;179471807;179471806
Novex-2	8968	27127;27128;27129	chr2:178607081;178607080;178607079	chr2:179471808;179471807;179471806
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Fn3-17
• Domain position: 78
• Structural Position: 112
• Q(SASA): 0.0802
• 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
N/K	None	None	1.0	D	0.782	0.721	0.340273420219	gnomAD-4.0.0	6.8483E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	1.65837E-05

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
N/A	0.9994	likely_pathogenic	0.9992	pathogenic	-1.17	Destabilizing	1.0	D	0.852	deleterious	None	None	None	None	N
N/C	0.9912	likely_pathogenic	0.9889	pathogenic	-0.92	Destabilizing	1.0	D	0.851	deleterious	None	None	None	None	N
N/D	0.9963	likely_pathogenic	0.9944	pathogenic	-2.354	Highly Destabilizing	0.999	D	0.625	neutral	D	0.542111326	None	None	N
N/E	0.9991	likely_pathogenic	0.9989	pathogenic	-2.143	Highly Destabilizing	0.999	D	0.761	deleterious	None	None	None	None	N
N/F	0.9999	likely_pathogenic	0.9998	pathogenic	-0.955	Destabilizing	1.0	D	0.893	deleterious	None	None	None	None	N
N/G	0.9937	likely_pathogenic	0.9925	pathogenic	-1.484	Destabilizing	0.999	D	0.597	neutral	None	None	None	None	N
N/H	0.9971	likely_pathogenic	0.9954	pathogenic	-1.069	Destabilizing	1.0	D	0.793	deleterious	D	0.543885753	None	None	N
N/I	0.9993	likely_pathogenic	0.9982	pathogenic	-0.346	Destabilizing	1.0	D	0.861	deleterious	D	0.544139243	None	None	N
N/K	0.9996	likely_pathogenic	0.9993	pathogenic	-0.433	Destabilizing	1.0	D	0.782	deleterious	D	0.542871795	None	None	N
N/L	0.9975	likely_pathogenic	0.9953	pathogenic	-0.346	Destabilizing	1.0	D	0.857	deleterious	None	None	None	None	N
N/M	0.9987	likely_pathogenic	0.9976	pathogenic	-0.242	Destabilizing	1.0	D	0.883	deleterious	None	None	None	None	N
N/P	0.9996	likely_pathogenic	0.9994	pathogenic	-0.597	Destabilizing	1.0	D	0.865	deleterious	None	None	None	None	N
N/Q	0.9994	likely_pathogenic	0.9992	pathogenic	-1.19	Destabilizing	1.0	D	0.807	deleterious	None	None	None	None	N
N/R	0.9992	likely_pathogenic	0.9989	pathogenic	-0.487	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	N
N/S	0.9832	likely_pathogenic	0.9745	pathogenic	-1.348	Destabilizing	0.999	D	0.609	neutral	N	0.509003462	None	None	N
N/T	0.9939	likely_pathogenic	0.9901	pathogenic	-0.986	Destabilizing	0.999	D	0.754	deleterious	N	0.512064427	None	None	N
N/V	0.9989	likely_pathogenic	0.9976	pathogenic	-0.597	Destabilizing	1.0	D	0.871	deleterious	None	None	None	None	N
N/W	0.9999	likely_pathogenic	0.9999	pathogenic	-0.975	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	N
N/Y	0.9987	likely_pathogenic	0.9976	pathogenic	-0.574	Destabilizing	1.0	D	0.881	deleterious	D	0.543885753	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.