TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8247	24964;24965;24966	chr2:178718367;178718366;178718365	chr2:179583094;179583093;179583092
N2AB	7930	24013;24014;24015	chr2:178718367;178718366;178718365	chr2:179583094;179583093;179583092
N2A	7003	21232;21233;21234	chr2:178718367;178718366;178718365	chr2:179583094;179583093;179583092
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-67
• Domain position: 77
• Structural Position: 161
• Q(SASA): 0.1599
• 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	rs1423015364	None	0.994	N	0.565	0.525	0.298745278005	gnomAD-4.0.0	3.18289E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.71729E-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	0.9936	likely_pathogenic	0.9911	pathogenic	-0.418	Destabilizing	0.996	D	0.718	prob.delet.	None	None	None	None	N
N/C	0.9885	likely_pathogenic	0.9845	pathogenic	-0.032	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
N/D	0.9509	likely_pathogenic	0.9394	pathogenic	-1.522	Destabilizing	0.998	D	0.611	neutral	D	0.54567559	None	None	N
N/E	0.9953	likely_pathogenic	0.9935	pathogenic	-1.467	Destabilizing	0.999	D	0.659	neutral	None	None	None	None	N
N/F	0.9994	likely_pathogenic	0.9992	pathogenic	-0.61	Destabilizing	0.995	D	0.765	deleterious	None	None	None	None	N
N/G	0.975	likely_pathogenic	0.9692	pathogenic	-0.674	Destabilizing	0.999	D	0.551	neutral	None	None	None	None	N
N/H	0.9797	likely_pathogenic	0.9749	pathogenic	-0.684	Destabilizing	0.998	D	0.704	prob.neutral	D	0.535586732	None	None	N
N/I	0.9936	likely_pathogenic	0.9909	pathogenic	0.2	Stabilizing	0.998	D	0.773	deleterious	D	0.547196527	None	None	N
N/K	0.9972	likely_pathogenic	0.9961	pathogenic	-0.067	Destabilizing	0.998	D	0.661	neutral	D	0.535079753	None	None	N
N/L	0.9907	likely_pathogenic	0.9881	pathogenic	0.2	Stabilizing	0.998	D	0.765	deleterious	None	None	None	None	N
N/M	0.9893	likely_pathogenic	0.9864	pathogenic	0.724	Stabilizing	1.0	D	0.773	deleterious	None	None	None	None	N
N/P	0.9985	likely_pathogenic	0.9982	pathogenic	0.022	Stabilizing	1.0	D	0.772	deleterious	None	None	None	None	N
N/Q	0.9972	likely_pathogenic	0.9962	pathogenic	-0.993	Destabilizing	1.0	D	0.706	prob.neutral	None	None	None	None	N
N/R	0.9974	likely_pathogenic	0.9966	pathogenic	0.067	Stabilizing	1.0	D	0.713	prob.delet.	None	None	None	None	N
N/S	0.8166	likely_pathogenic	0.7905	pathogenic	-0.598	Destabilizing	0.994	D	0.565	neutral	N	0.498907242	None	None	N
N/T	0.934	likely_pathogenic	0.9216	pathogenic	-0.399	Destabilizing	0.994	D	0.651	neutral	D	0.534572774	None	None	N
N/V	0.9924	likely_pathogenic	0.9893	pathogenic	0.022	Stabilizing	0.998	D	0.767	deleterious	None	None	None	None	N
N/W	0.9996	likely_pathogenic	0.9995	pathogenic	-0.518	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
N/Y	0.9907	likely_pathogenic	0.9893	pathogenic	-0.16	Destabilizing	0.733	D	0.429	neutral	D	0.546943037	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.