TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20596	62011;62012;62013	chr2:178589939;178589938;178589937	chr2:179454666;179454665;179454664
N2AB	18955	57088;57089;57090	chr2:178589939;178589938;178589937	chr2:179454666;179454665;179454664
N2A	18028	54307;54308;54309	chr2:178589939;178589938;178589937	chr2:179454666;179454665;179454664
N2B	11531	34816;34817;34818	chr2:178589939;178589938;178589937	chr2:179454666;179454665;179454664
Novex-1	11656	35191;35192;35193	chr2:178589939;178589938;178589937	chr2:179454666;179454665;179454664
Novex-2	11723	35392;35393;35394	chr2:178589939;178589938;178589937	chr2:179454666;179454665;179454664
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: Fn3-37
• Domain position: 28
• Structural Position: 30
• Q(SASA): 0.2932
• 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/D	None	None	0.999	N	0.604	0.343	0.26547132957	gnomAD-4.0.0	3.60097E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.9375E-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	0.7408	likely_pathogenic	0.7283	pathogenic	-0.637	Destabilizing	1.0	D	0.635	neutral	None	None	None	None	N
N/C	0.658	likely_pathogenic	0.6488	pathogenic	0.178	Stabilizing	1.0	D	0.637	neutral	None	None	None	None	N
N/D	0.1791	likely_benign	0.1744	benign	-0.746	Destabilizing	0.999	D	0.604	neutral	N	0.413292777	None	None	N
N/E	0.8745	likely_pathogenic	0.8636	pathogenic	-0.732	Destabilizing	0.999	D	0.679	prob.neutral	None	None	None	None	N
N/F	0.9396	likely_pathogenic	0.9393	pathogenic	-0.915	Destabilizing	1.0	D	0.645	neutral	None	None	None	None	N
N/G	0.7698	likely_pathogenic	0.7709	pathogenic	-0.87	Destabilizing	0.999	D	0.571	neutral	None	None	None	None	N
N/H	0.4864	ambiguous	0.4794	ambiguous	-0.963	Destabilizing	1.0	D	0.686	prob.neutral	N	0.476457666	None	None	N
N/I	0.8241	likely_pathogenic	0.8216	pathogenic	-0.088	Destabilizing	1.0	D	0.675	prob.neutral	N	0.493093891	None	None	N
N/K	0.9393	likely_pathogenic	0.9338	pathogenic	-0.046	Destabilizing	1.0	D	0.685	prob.neutral	N	0.482925673	None	None	N
N/L	0.7723	likely_pathogenic	0.7685	pathogenic	-0.088	Destabilizing	1.0	D	0.671	neutral	None	None	None	None	N
N/M	0.8636	likely_pathogenic	0.8634	pathogenic	0.614	Stabilizing	1.0	D	0.615	neutral	None	None	None	None	N
N/P	0.9257	likely_pathogenic	0.9085	pathogenic	-0.244	Destabilizing	1.0	D	0.69	prob.neutral	None	None	None	None	N
N/Q	0.8831	likely_pathogenic	0.8784	pathogenic	-0.8	Destabilizing	1.0	D	0.698	prob.neutral	None	None	None	None	N
N/R	0.917	likely_pathogenic	0.9143	pathogenic	0.056	Stabilizing	1.0	D	0.734	prob.delet.	None	None	None	None	N
N/S	0.1904	likely_benign	0.1915	benign	-0.482	Destabilizing	0.999	D	0.57	neutral	N	0.466921332	None	None	N
N/T	0.506	ambiguous	0.5014	ambiguous	-0.309	Destabilizing	0.999	D	0.674	neutral	N	0.513648985	None	None	N
N/V	0.8022	likely_pathogenic	0.8044	pathogenic	-0.244	Destabilizing	1.0	D	0.671	neutral	None	None	None	None	N
N/W	0.9806	likely_pathogenic	0.98	pathogenic	-0.779	Destabilizing	1.0	D	0.649	neutral	None	None	None	None	N
N/Y	0.6378	likely_pathogenic	0.6375	pathogenic	-0.51	Destabilizing	1.0	D	0.663	neutral	N	0.511451635	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.