TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7024	21295;21296;21297	chr2:178724305;178724304;178724303	chr2:179589032;179589031;179589030
N2AB	6707	20344;20345;20346	chr2:178724305;178724304;178724303	chr2:179589032;179589031;179589030
N2A	5780	17563;17564;17565	chr2:178724305;178724304;178724303	chr2:179589032;179589031;179589030
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-54
• Domain position: 77
• Structural Position: 161
• Q(SASA): 0.259
• 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	0.575	0.415	None	gnomAD-4.0.0	1.5921E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85959E-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	0.9963	likely_pathogenic	0.9965	pathogenic	-0.615	Destabilizing	1.0	D	0.762	deleterious	None	None	None	None	N
N/C	0.9844	likely_pathogenic	0.9813	pathogenic	-0.188	Destabilizing	1.0	D	0.701	prob.neutral	None	None	None	None	N
N/D	0.9722	likely_pathogenic	0.9738	pathogenic	-1.459	Destabilizing	0.999	D	0.613	neutral	D	0.528723424	None	None	N
N/E	0.9959	likely_pathogenic	0.997	pathogenic	-1.406	Destabilizing	0.999	D	0.729	prob.delet.	None	None	None	None	N
N/F	0.9995	likely_pathogenic	0.9996	pathogenic	-0.84	Destabilizing	1.0	D	0.737	prob.delet.	None	None	None	None	N
N/G	0.981	likely_pathogenic	0.9812	pathogenic	-0.859	Destabilizing	0.999	D	0.556	neutral	None	None	None	None	N
N/H	0.9821	likely_pathogenic	0.9817	pathogenic	-0.803	Destabilizing	1.0	D	0.757	deleterious	N	0.518469982	None	None	N
N/I	0.9947	likely_pathogenic	0.9955	pathogenic	-0.027	Destabilizing	1.0	D	0.709	prob.delet.	N	0.512140106	None	None	N
N/K	0.997	likely_pathogenic	0.9975	pathogenic	-0.084	Destabilizing	1.0	D	0.747	deleterious	D	0.529483892	None	None	N
N/L	0.9909	likely_pathogenic	0.9921	pathogenic	-0.027	Destabilizing	1.0	D	0.729	prob.delet.	None	None	None	None	N
N/M	0.9946	likely_pathogenic	0.9949	pathogenic	0.522	Stabilizing	1.0	D	0.737	prob.delet.	None	None	None	None	N
N/P	0.9973	likely_pathogenic	0.9975	pathogenic	-0.196	Destabilizing	1.0	D	0.732	prob.delet.	None	None	None	None	N
N/Q	0.9974	likely_pathogenic	0.9979	pathogenic	-1.04	Destabilizing	1.0	D	0.761	deleterious	None	None	None	None	N
N/R	0.9962	likely_pathogenic	0.9969	pathogenic	0.097	Stabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
N/S	0.8999	likely_pathogenic	0.8849	pathogenic	-0.67	Destabilizing	0.999	D	0.575	neutral	N	0.497991673	None	None	N
N/T	0.9696	likely_pathogenic	0.9695	pathogenic	-0.469	Destabilizing	0.999	D	0.72	prob.delet.	N	0.476639158	None	None	N
N/V	0.9942	likely_pathogenic	0.9948	pathogenic	-0.196	Destabilizing	1.0	D	0.725	prob.delet.	None	None	None	None	N
N/W	0.9995	likely_pathogenic	0.9996	pathogenic	-0.701	Destabilizing	1.0	D	0.705	prob.neutral	None	None	None	None	N
N/Y	0.9896	likely_pathogenic	0.9906	pathogenic	-0.365	Destabilizing	1.0	D	0.737	prob.delet.	N	0.518469982	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.