TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30892	92899;92900;92901	chr2:178548952;178548951;178548950	chr2:179413679;179413678;179413677
N2AB	29251	87976;87977;87978	chr2:178548952;178548951;178548950	chr2:179413679;179413678;179413677
N2A	28324	85195;85196;85197	chr2:178548952;178548951;178548950	chr2:179413679;179413678;179413677
N2B	21827	65704;65705;65706	chr2:178548952;178548951;178548950	chr2:179413679;179413678;179413677
Novex-1	21952	66079;66080;66081	chr2:178548952;178548951;178548950	chr2:179413679;179413678;179413677
Novex-2	22019	66280;66281;66282	chr2:178548952;178548951;178548950	chr2:179413679;179413678;179413677
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Y
• RefSeq wild type transcript codon: TAC
• RefSeq wild type template codon: ATG
• Domain: Fn3-113
• Domain position: 72
• Structural Position: 104
• Q(SASA): 0.1159
• 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
Y/H	None	None	1.0	D	0.835	0.873	0.844041732929	gnomAD-4.0.0	3.60097E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.9375E-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
Y/A	0.9939	likely_pathogenic	0.9941	pathogenic	-3.133	Highly Destabilizing	1.0	D	0.841	deleterious	None	None	None	None	N
Y/C	0.9174	likely_pathogenic	0.9152	pathogenic	-2.068	Highly Destabilizing	1.0	D	0.831	deleterious	D	0.69568803	None	None	N
Y/D	0.9926	likely_pathogenic	0.9919	pathogenic	-3.587	Highly Destabilizing	1.0	D	0.839	deleterious	D	0.67966867	None	None	N
Y/E	0.9971	likely_pathogenic	0.997	pathogenic	-3.388	Highly Destabilizing	1.0	D	0.861	deleterious	None	None	None	None	N
Y/F	0.2936	likely_benign	0.2703	benign	-1.17	Destabilizing	0.999	D	0.777	deleterious	D	0.630955171	None	None	N
Y/G	0.9795	likely_pathogenic	0.9792	pathogenic	-3.552	Highly Destabilizing	1.0	D	0.852	deleterious	None	None	None	None	N
Y/H	0.9602	likely_pathogenic	0.9521	pathogenic	-2.14	Highly Destabilizing	1.0	D	0.835	deleterious	D	0.69568803	None	None	N
Y/I	0.9627	likely_pathogenic	0.964	pathogenic	-1.738	Destabilizing	1.0	D	0.849	deleterious	None	None	None	None	N
Y/K	0.9964	likely_pathogenic	0.9959	pathogenic	-2.419	Highly Destabilizing	1.0	D	0.858	deleterious	None	None	None	None	N
Y/L	0.9292	likely_pathogenic	0.9363	pathogenic	-1.738	Destabilizing	0.999	D	0.817	deleterious	None	None	None	None	N
Y/M	0.9685	likely_pathogenic	0.9706	pathogenic	-1.499	Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	N
Y/N	0.9457	likely_pathogenic	0.9426	pathogenic	-3.229	Highly Destabilizing	1.0	D	0.843	deleterious	D	0.695486226	None	None	N
Y/P	0.9989	likely_pathogenic	0.9989	pathogenic	-2.218	Highly Destabilizing	1.0	D	0.869	deleterious	None	None	None	None	N
Y/Q	0.9957	likely_pathogenic	0.9954	pathogenic	-2.981	Highly Destabilizing	1.0	D	0.829	deleterious	None	None	None	None	N
Y/R	0.9909	likely_pathogenic	0.9904	pathogenic	-2.152	Highly Destabilizing	1.0	D	0.848	deleterious	None	None	None	None	N
Y/S	0.9851	likely_pathogenic	0.9847	pathogenic	-3.575	Highly Destabilizing	1.0	D	0.86	deleterious	D	0.69568803	None	None	N
Y/T	0.993	likely_pathogenic	0.9931	pathogenic	-3.254	Highly Destabilizing	1.0	D	0.86	deleterious	None	None	None	None	N
Y/V	0.9375	likely_pathogenic	0.9404	pathogenic	-2.218	Highly Destabilizing	1.0	D	0.836	deleterious	None	None	None	None	N
Y/W	0.8164	likely_pathogenic	0.7918	pathogenic	-0.541	Destabilizing	1.0	D	0.811	deleterious	None	None	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.