TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	16233	48922;48923;48924	chr2:178614910;178614909;178614908	chr2:179479637;179479636;179479635
N2AB	14592	43999;44000;44001	chr2:178614910;178614909;178614908	chr2:179479637;179479636;179479635
N2A	13665	41218;41219;41220	chr2:178614910;178614909;178614908	chr2:179479637;179479636;179479635
N2B	7168	21727;21728;21729	chr2:178614910;178614909;178614908	chr2:179479637;179479636;179479635
Novex-1	7293	22102;22103;22104	chr2:178614910;178614909;178614908	chr2:179479637;179479636;179479635
Novex-2	7360	22303;22304;22305	chr2:178614910;178614909;178614908	chr2:179479637;179479636;179479635
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: Fn3-5
• Domain position: 79
• Structural Position: 112
• Q(SASA): 0.1139
• 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	D	0.583	0.551	0.332133492242	gnomAD-4.0.0	1.39151E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.82057E-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	0.9951	likely_pathogenic	0.991	pathogenic	-0.703	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
N/C	0.9324	likely_pathogenic	0.9094	pathogenic	-0.613	Destabilizing	1.0	D	0.792	deleterious	None	None	None	None	N
N/D	0.9863	likely_pathogenic	0.9757	pathogenic	-2.31	Highly Destabilizing	0.999	D	0.603	neutral	D	0.666502458	None	None	N
N/E	0.9986	likely_pathogenic	0.9972	pathogenic	-2.127	Highly Destabilizing	0.999	D	0.701	prob.neutral	None	None	None	None	N
N/F	0.999	likely_pathogenic	0.9983	pathogenic	-0.542	Destabilizing	1.0	D	0.825	deleterious	None	None	None	None	N
N/G	0.9762	likely_pathogenic	0.9621	pathogenic	-1.019	Destabilizing	0.999	D	0.557	neutral	None	None	None	None	N
N/H	0.9657	likely_pathogenic	0.9465	pathogenic	-0.731	Destabilizing	1.0	D	0.763	deleterious	D	0.754353502	None	None	N
N/I	0.9946	likely_pathogenic	0.991	pathogenic	0.105	Stabilizing	1.0	D	0.793	deleterious	D	0.774635359	None	None	N
N/K	0.9985	likely_pathogenic	0.9972	pathogenic	-0.308	Destabilizing	1.0	D	0.733	prob.delet.	D	0.702519295	None	None	N
N/L	0.9766	likely_pathogenic	0.9619	pathogenic	0.105	Stabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
N/M	0.9946	likely_pathogenic	0.9917	pathogenic	0.249	Stabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
N/P	0.9966	likely_pathogenic	0.9932	pathogenic	-0.137	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
N/Q	0.9966	likely_pathogenic	0.9942	pathogenic	-1.15	Destabilizing	1.0	D	0.77	deleterious	None	None	None	None	N
N/R	0.9959	likely_pathogenic	0.9925	pathogenic	-0.342	Destabilizing	1.0	D	0.782	deleterious	None	None	None	None	N
N/S	0.7793	likely_pathogenic	0.6834	pathogenic	-1.141	Destabilizing	0.999	D	0.583	neutral	D	0.644354399	None	None	N
N/T	0.9407	likely_pathogenic	0.908	pathogenic	-0.811	Destabilizing	0.999	D	0.696	prob.neutral	D	0.608317695	None	None	N
N/V	0.9921	likely_pathogenic	0.9871	pathogenic	-0.137	Destabilizing	1.0	D	0.807	deleterious	None	None	None	None	N
N/W	0.9995	likely_pathogenic	0.9992	pathogenic	-0.596	Destabilizing	1.0	D	0.788	deleterious	None	None	None	None	N
N/Y	0.9921	likely_pathogenic	0.9878	pathogenic	-0.152	Destabilizing	1.0	D	0.794	deleterious	D	0.774548026	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.