TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15641	47146;47147;47148	chr2:178618629;178618628;178618627	chr2:179483356;179483355;179483354
N2AB	14000	42223;42224;42225	chr2:178618629;178618628;178618627	chr2:179483356;179483355;179483354
N2A	13073	39442;39443;39444	chr2:178618629;178618628;178618627	chr2:179483356;179483355;179483354
N2B	6576	19951;19952;19953	chr2:178618629;178618628;178618627	chr2:179483356;179483355;179483354
Novex-1	6701	20326;20327;20328	chr2:178618629;178618628;178618627	chr2:179483356;179483355;179483354
Novex-2	6768	20527;20528;20529	chr2:178618629;178618628;178618627	chr2:179483356;179483355;179483354
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: Ig-108
• Domain position: 74
• Structural Position: 161
• Q(SASA): 0.1361
• 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/K	None	None	1.0	N	0.713	0.462	0.225902525712	gnomAD-4.0.0	1.59452E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86362E-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	0.9923	likely_pathogenic	0.9949	pathogenic	-0.338	Destabilizing	1.0	D	0.733	prob.delet.	None	None	None	None	N
N/C	0.9319	likely_pathogenic	0.9514	pathogenic	0.192	Stabilizing	1.0	D	0.689	prob.neutral	None	None	None	None	N
N/D	0.9507	likely_pathogenic	0.96	pathogenic	-1.447	Destabilizing	0.999	D	0.607	neutral	N	0.501062904	None	None	N
N/E	0.995	likely_pathogenic	0.9958	pathogenic	-1.33	Destabilizing	0.999	D	0.686	prob.neutral	None	None	None	None	N
N/F	0.999	likely_pathogenic	0.9989	pathogenic	-0.138	Destabilizing	1.0	D	0.731	prob.delet.	None	None	None	None	N
N/G	0.9586	likely_pathogenic	0.9692	pathogenic	-0.682	Destabilizing	0.999	D	0.557	neutral	None	None	None	None	N
N/H	0.9486	likely_pathogenic	0.957	pathogenic	-0.727	Destabilizing	1.0	D	0.732	prob.delet.	N	0.503526805	None	None	N
N/I	0.9924	likely_pathogenic	0.9941	pathogenic	0.537	Stabilizing	1.0	D	0.707	prob.neutral	N	0.504208404	None	None	N
N/K	0.9961	likely_pathogenic	0.997	pathogenic	-0.28	Destabilizing	1.0	D	0.713	prob.delet.	N	0.502576731	None	None	N
N/L	0.9851	likely_pathogenic	0.9864	pathogenic	0.537	Stabilizing	1.0	D	0.712	prob.delet.	None	None	None	None	N
N/M	0.9901	likely_pathogenic	0.9917	pathogenic	0.986	Stabilizing	1.0	D	0.723	prob.delet.	None	None	None	None	N
N/P	0.9972	likely_pathogenic	0.9979	pathogenic	0.276	Stabilizing	1.0	D	0.703	prob.neutral	None	None	None	None	N
N/Q	0.9945	likely_pathogenic	0.9952	pathogenic	-0.895	Destabilizing	1.0	D	0.739	prob.delet.	None	None	None	None	N
N/R	0.9951	likely_pathogenic	0.996	pathogenic	-0.429	Destabilizing	1.0	D	0.749	deleterious	None	None	None	None	N
N/S	0.7845	likely_pathogenic	0.845	pathogenic	-0.794	Destabilizing	0.999	D	0.582	neutral	N	0.499221838	None	None	N
N/T	0.9245	likely_pathogenic	0.9401	pathogenic	-0.521	Destabilizing	0.999	D	0.675	prob.neutral	N	0.485029025	None	None	N
N/V	0.9882	likely_pathogenic	0.9925	pathogenic	0.276	Stabilizing	1.0	D	0.712	prob.delet.	None	None	None	None	N
N/W	0.9993	likely_pathogenic	0.9995	pathogenic	-0.139	Destabilizing	1.0	D	0.685	prob.neutral	None	None	None	None	N
N/Y	0.9858	likely_pathogenic	0.9865	pathogenic	0.203	Stabilizing	1.0	D	0.724	prob.delet.	N	0.503526805	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.