TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15100	45523;45524;45525	chr2:178621526;178621525;178621524	chr2:179486253;179486252;179486251
N2AB	13459	40600;40601;40602	chr2:178621526;178621525;178621524	chr2:179486253;179486252;179486251
N2A	12532	37819;37820;37821	chr2:178621526;178621525;178621524	chr2:179486253;179486252;179486251
N2B	6035	18328;18329;18330	chr2:178621526;178621525;178621524	chr2:179486253;179486252;179486251
Novex-1	6160	18703;18704;18705	chr2:178621526;178621525;178621524	chr2:179486253;179486252;179486251
Novex-2	6227	18904;18905;18906	chr2:178621526;178621525;178621524	chr2:179486253;179486252;179486251
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: Ig-102
• Domain position: 70
• Structural Position: 154
• Q(SASA): 0.1422
• 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/C	None	None	0.998	D	0.854	0.814	0.939711833812	gnomAD-4.0.0	2.40064E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.625E-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	0.9948	likely_pathogenic	0.9927	pathogenic	-2.627	Highly Destabilizing	0.87	D	0.817	deleterious	None	None	None	None	N
Y/C	0.9073	likely_pathogenic	0.9029	pathogenic	-2.161	Highly Destabilizing	0.998	D	0.854	deleterious	D	0.796094217	None	None	N
Y/D	0.9971	likely_pathogenic	0.9939	pathogenic	-3.172	Highly Destabilizing	0.991	D	0.886	deleterious	D	0.796094217	None	None	N
Y/E	0.9983	likely_pathogenic	0.9974	pathogenic	-2.933	Highly Destabilizing	0.979	D	0.868	deleterious	None	None	None	None	N
Y/F	0.1447	likely_benign	0.179	benign	-0.958	Destabilizing	0.016	N	0.442	neutral	D	0.675949081	None	None	N
Y/G	0.9907	likely_pathogenic	0.9852	pathogenic	-3.089	Highly Destabilizing	0.979	D	0.883	deleterious	None	None	None	None	N
Y/H	0.9528	likely_pathogenic	0.9366	pathogenic	-2.144	Highly Destabilizing	0.991	D	0.743	deleterious	D	0.796666597	None	None	N
Y/I	0.8806	likely_pathogenic	0.9013	pathogenic	-1.099	Destabilizing	0.921	D	0.819	deleterious	None	None	None	None	N
Y/K	0.9974	likely_pathogenic	0.9963	pathogenic	-2.21	Highly Destabilizing	0.979	D	0.869	deleterious	None	None	None	None	N
Y/L	0.8591	likely_pathogenic	0.8561	pathogenic	-1.099	Destabilizing	0.769	D	0.744	deleterious	None	None	None	None	N
Y/M	0.9705	likely_pathogenic	0.9717	pathogenic	-1.203	Destabilizing	0.994	D	0.807	deleterious	None	None	None	None	N
Y/N	0.9836	likely_pathogenic	0.9719	pathogenic	-3.125	Highly Destabilizing	0.991	D	0.862	deleterious	D	0.796094217	None	None	N
Y/P	0.9984	likely_pathogenic	0.9976	pathogenic	-1.624	Destabilizing	0.993	D	0.887	deleterious	None	None	None	None	N
Y/Q	0.9972	likely_pathogenic	0.9959	pathogenic	-2.725	Highly Destabilizing	0.993	D	0.802	deleterious	None	None	None	None	N
Y/R	0.9891	likely_pathogenic	0.9856	pathogenic	-2.275	Highly Destabilizing	0.979	D	0.853	deleterious	None	None	None	None	N
Y/S	0.9869	likely_pathogenic	0.9788	pathogenic	-3.505	Highly Destabilizing	0.973	D	0.866	deleterious	D	0.796094217	None	None	N
Y/T	0.9925	likely_pathogenic	0.9897	pathogenic	-3.119	Highly Destabilizing	0.979	D	0.868	deleterious	None	None	None	None	N
Y/V	0.8705	likely_pathogenic	0.8851	pathogenic	-1.624	Destabilizing	0.769	D	0.777	deleterious	None	None	None	None	N
Y/W	0.7481	likely_pathogenic	0.7552	pathogenic	-0.323	Destabilizing	0.994	D	0.73	prob.delet.	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.