TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20750	62473;62474;62475	chr2:178589477;178589476;178589475	chr2:179454204;179454203;179454202
N2AB	19109	57550;57551;57552	chr2:178589477;178589476;178589475	chr2:179454204;179454203;179454202
N2A	18182	54769;54770;54771	chr2:178589477;178589476;178589475	chr2:179454204;179454203;179454202
N2B	11685	35278;35279;35280	chr2:178589477;178589476;178589475	chr2:179454204;179454203;179454202
Novex-1	11810	35653;35654;35655	chr2:178589477;178589476;178589475	chr2:179454204;179454203;179454202
Novex-2	11877	35854;35855;35856	chr2:178589477;178589476;178589475	chr2:179454204;179454203;179454202
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGG
• RefSeq wild type template codon: CCC
• Domain: Fn3-38
• Domain position: 83
• Structural Position: 115
• Q(SASA): 0.1841
• Predicted PPI site: I

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
G/R	rs776757434	-0.474	0.999	D	0.878	0.501	0.637830317834	gnomAD-2.1.1	4.03E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	None	0	8.91E-06	0
G/R	rs776757434	-0.474	0.999	D	0.878	0.501	0.637830317834	gnomAD-4.0.0	1.59213E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85914E-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
G/A	0.85	likely_pathogenic	0.8269	pathogenic	-0.744	Destabilizing	0.619	D	0.411	neutral	D	0.546414784	None	None	I
G/C	0.9269	likely_pathogenic	0.9167	pathogenic	-1.057	Destabilizing	1.0	D	0.869	deleterious	None	None	None	None	I
G/D	0.968	likely_pathogenic	0.9586	pathogenic	-1.239	Destabilizing	0.999	D	0.868	deleterious	None	None	None	None	I
G/E	0.9782	likely_pathogenic	0.9701	pathogenic	-1.384	Destabilizing	0.999	D	0.879	deleterious	D	0.528475113	None	None	I
G/F	0.9843	likely_pathogenic	0.984	pathogenic	-1.319	Destabilizing	1.0	D	0.875	deleterious	None	None	None	None	I
G/H	0.9882	likely_pathogenic	0.9852	pathogenic	-0.926	Destabilizing	1.0	D	0.876	deleterious	None	None	None	None	I
G/I	0.9869	likely_pathogenic	0.9826	pathogenic	-0.745	Destabilizing	0.996	D	0.865	deleterious	None	None	None	None	I
G/K	0.9862	likely_pathogenic	0.9812	pathogenic	-1.183	Destabilizing	0.998	D	0.878	deleterious	None	None	None	None	I
G/L	0.9859	likely_pathogenic	0.9819	pathogenic	-0.745	Destabilizing	0.996	D	0.855	deleterious	None	None	None	None	I
G/M	0.9867	likely_pathogenic	0.9842	pathogenic	-0.586	Destabilizing	1.0	D	0.874	deleterious	None	None	None	None	I
G/N	0.9681	likely_pathogenic	0.9604	pathogenic	-0.843	Destabilizing	0.999	D	0.795	deleterious	None	None	None	None	I
G/P	0.999	likely_pathogenic	0.9986	pathogenic	-0.71	Destabilizing	0.999	D	0.88	deleterious	None	None	None	None	I
G/Q	0.9743	likely_pathogenic	0.9658	pathogenic	-1.201	Destabilizing	0.999	D	0.879	deleterious	None	None	None	None	I
G/R	0.963	likely_pathogenic	0.9528	pathogenic	-0.631	Destabilizing	0.999	D	0.878	deleterious	D	0.546668273	None	None	I
G/S	0.799	likely_pathogenic	0.7637	pathogenic	-0.998	Destabilizing	0.996	D	0.723	prob.delet.	None	None	None	None	I
G/T	0.9609	likely_pathogenic	0.9466	pathogenic	-1.088	Destabilizing	0.998	D	0.867	deleterious	None	None	None	None	I
G/V	0.977	likely_pathogenic	0.9697	pathogenic	-0.71	Destabilizing	0.79	D	0.622	neutral	D	0.535565458	None	None	I
G/W	0.9739	likely_pathogenic	0.9725	pathogenic	-1.437	Destabilizing	1.0	D	0.839	deleterious	D	0.547682231	None	None	I
G/Y	0.9789	likely_pathogenic	0.9777	pathogenic	-1.127	Destabilizing	1.0	D	0.886	deleterious	None	None	None	None	I

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.