TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	24887	74884;74885;74886	chr2:178571473;178571472;178571471	chr2:179436200;179436199;179436198
N2AB	23246	69961;69962;69963	chr2:178571473;178571472;178571471	chr2:179436200;179436199;179436198
N2A	22319	67180;67181;67182	chr2:178571473;178571472;178571471	chr2:179436200;179436199;179436198
N2B	15822	47689;47690;47691	chr2:178571473;178571472;178571471	chr2:179436200;179436199;179436198
Novex-1	15947	48064;48065;48066	chr2:178571473;178571472;178571471	chr2:179436200;179436199;179436198
Novex-2	16014	48265;48266;48267	chr2:178571473;178571472;178571471	chr2:179436200;179436199;179436198
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: Fn3-68
• Domain position: 80
• Structural Position: 112
• Q(SASA): 0.0933
• 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/S	None	None	0.999	N	0.568	0.603	0.326881540566	gnomAD-4.0.0	1.59212E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85951E-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
N/A	0.9995	likely_pathogenic	0.9994	pathogenic	-0.943	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
N/C	0.9881	likely_pathogenic	0.9862	pathogenic	-0.843	Destabilizing	1.0	D	0.77	deleterious	None	None	None	None	N
N/D	0.9944	likely_pathogenic	0.9936	pathogenic	-2.368	Highly Destabilizing	0.999	D	0.59	neutral	D	0.549188444	None	None	N
N/E	0.9994	likely_pathogenic	0.9993	pathogenic	-2.185	Highly Destabilizing	0.999	D	0.711	prob.delet.	None	None	None	None	N
N/F	0.9998	likely_pathogenic	0.9997	pathogenic	-0.893	Destabilizing	1.0	D	0.814	deleterious	None	None	None	None	N
N/G	0.9959	likely_pathogenic	0.9952	pathogenic	-1.236	Destabilizing	0.999	D	0.544	neutral	None	None	None	None	N
N/H	0.9948	likely_pathogenic	0.9942	pathogenic	-0.879	Destabilizing	1.0	D	0.779	deleterious	D	0.562319176	None	None	N
N/I	0.9987	likely_pathogenic	0.9985	pathogenic	-0.193	Destabilizing	1.0	D	0.777	deleterious	D	0.562572666	None	None	N
N/K	0.9994	likely_pathogenic	0.9993	pathogenic	-0.302	Destabilizing	1.0	D	0.742	deleterious	D	0.538592608	None	None	N
N/L	0.9954	likely_pathogenic	0.9949	pathogenic	-0.193	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
N/M	0.9979	likely_pathogenic	0.9976	pathogenic	-0.057	Destabilizing	1.0	D	0.807	deleterious	None	None	None	None	N
N/P	0.9997	likely_pathogenic	0.9997	pathogenic	-0.418	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
N/Q	0.9995	likely_pathogenic	0.9995	pathogenic	-1.182	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
N/R	0.9991	likely_pathogenic	0.9991	pathogenic	-0.265	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	N
N/S	0.9717	likely_pathogenic	0.9665	pathogenic	-1.177	Destabilizing	0.999	D	0.568	neutral	N	0.513940986	None	None	N
N/T	0.9915	likely_pathogenic	0.9904	pathogenic	-0.848	Destabilizing	0.999	D	0.701	prob.neutral	N	0.51255818	None	None	N
N/V	0.9984	likely_pathogenic	0.9982	pathogenic	-0.418	Destabilizing	1.0	D	0.789	deleterious	None	None	None	None	N
N/W	0.9999	likely_pathogenic	0.9999	pathogenic	-0.911	Destabilizing	1.0	D	0.773	deleterious	None	None	None	None	N
N/Y	0.9967	likely_pathogenic	0.9962	pathogenic	-0.476	Destabilizing	1.0	D	0.791	deleterious	D	0.550962871	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.