TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	21148	63667;63668;63669	chr2:178587965;178587964;178587963	chr2:179452692;179452691;179452690
N2AB	19507	58744;58745;58746	chr2:178587965;178587964;178587963	chr2:179452692;179452691;179452690
N2A	18580	55963;55964;55965	chr2:178587965;178587964;178587963	chr2:179452692;179452691;179452690
N2B	12083	36472;36473;36474	chr2:178587965;178587964;178587963	chr2:179452692;179452691;179452690
Novex-1	12208	36847;36848;36849	chr2:178587965;178587964;178587963	chr2:179452692;179452691;179452690
Novex-2	12275	37048;37049;37050	chr2:178587965;178587964;178587963	chr2:179452692;179452691;179452690
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Fn3-41
• Domain position: 85
• Structural Position: 111
• Q(SASA): 0.2774
• 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
Q/H	None	None	0.999	N	0.665	0.356	0.215109475489	gnomAD-4.0.0	1.59737E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.86707E-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
Q/A	0.4886	ambiguous	0.4938	ambiguous	-0.888	Destabilizing	0.997	D	0.491	neutral	None	None	None	None	I
Q/C	0.8376	likely_pathogenic	0.8463	pathogenic	-0.594	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	I
Q/D	0.9659	likely_pathogenic	0.9676	pathogenic	-1.822	Destabilizing	0.997	D	0.425	neutral	None	None	None	None	I
Q/E	0.2207	likely_benign	0.2142	benign	-1.617	Destabilizing	0.992	D	0.36	neutral	N	0.446600061	None	None	I
Q/F	0.9124	likely_pathogenic	0.9122	pathogenic	-0.498	Destabilizing	0.999	D	0.829	deleterious	None	None	None	None	I
Q/G	0.7852	likely_pathogenic	0.7948	pathogenic	-1.291	Destabilizing	0.997	D	0.619	neutral	None	None	None	None	I
Q/H	0.7364	likely_pathogenic	0.753	pathogenic	-1.108	Destabilizing	0.999	D	0.665	neutral	N	0.482232787	None	None	I
Q/I	0.5168	ambiguous	0.5104	ambiguous	0.183	Stabilizing	0.999	D	0.826	deleterious	None	None	None	None	I
Q/K	0.3765	ambiguous	0.388	ambiguous	-0.578	Destabilizing	0.997	D	0.441	neutral	N	0.440674166	None	None	I
Q/L	0.3479	ambiguous	0.3491	ambiguous	0.183	Stabilizing	0.997	D	0.619	neutral	N	0.492369636	None	None	I
Q/M	0.4428	ambiguous	0.4412	ambiguous	0.429	Stabilizing	0.999	D	0.669	neutral	None	None	None	None	I
Q/N	0.8466	likely_pathogenic	0.8541	pathogenic	-1.355	Destabilizing	0.999	D	0.603	neutral	None	None	None	None	I
Q/P	0.9726	likely_pathogenic	0.9708	pathogenic	-0.146	Destabilizing	0.999	D	0.746	deleterious	N	0.491639087	None	None	I
Q/R	0.3993	ambiguous	0.4048	ambiguous	-0.639	Destabilizing	0.997	D	0.419	neutral	N	0.45329396	None	None	I
Q/S	0.6254	likely_pathogenic	0.6389	pathogenic	-1.486	Destabilizing	0.997	D	0.397	neutral	None	None	None	None	I
Q/T	0.466	ambiguous	0.4735	ambiguous	-1.097	Destabilizing	0.999	D	0.659	neutral	None	None	None	None	I
Q/V	0.2969	likely_benign	0.2971	benign	-0.146	Destabilizing	0.999	D	0.683	prob.neutral	None	None	None	None	I
Q/W	0.8993	likely_pathogenic	0.9022	pathogenic	-0.529	Destabilizing	1.0	D	0.792	deleterious	None	None	None	None	I
Q/Y	0.8645	likely_pathogenic	0.8693	pathogenic	-0.163	Destabilizing	0.999	D	0.781	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.