TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7875	23848;23849;23850	chr2:178720019;178720018;178720017	chr2:179584746;179584745;179584744
N2AB	7558	22897;22898;22899	chr2:178720019;178720018;178720017	chr2:179584746;179584745;179584744
N2A	6631	20116;20117;20118	chr2:178720019;178720018;178720017	chr2:179584746;179584745;179584744
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: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-63
• Domain position: 81
• Structural Position: 164
• Q(SASA): 0.262
• 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/E	None	None	1.0	D	0.791	0.721	0.747641037427	gnomAD-4.0.0	1.59444E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.86408E-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	0.6865	likely_pathogenic	0.7447	pathogenic	-0.563	Destabilizing	0.999	D	0.625	neutral	D	0.603390144	None	None	I
G/C	0.9412	likely_pathogenic	0.9464	pathogenic	-0.77	Destabilizing	1.0	D	0.761	deleterious	None	None	None	None	I
G/D	0.9369	likely_pathogenic	0.9474	pathogenic	-1.332	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	I
G/E	0.9482	likely_pathogenic	0.9565	pathogenic	-1.497	Destabilizing	1.0	D	0.791	deleterious	D	0.560655742	None	None	I
G/F	0.9851	likely_pathogenic	0.9861	pathogenic	-1.285	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/H	0.9817	likely_pathogenic	0.9836	pathogenic	-0.984	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	I
G/I	0.9777	likely_pathogenic	0.979	pathogenic	-0.626	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	I
G/K	0.9828	likely_pathogenic	0.9846	pathogenic	-1.242	Destabilizing	1.0	D	0.79	deleterious	None	None	None	None	I
G/L	0.9718	likely_pathogenic	0.974	pathogenic	-0.626	Destabilizing	0.979	D	0.551	neutral	None	None	None	None	I
G/M	0.9799	likely_pathogenic	0.983	pathogenic	-0.422	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	I
G/N	0.9457	likely_pathogenic	0.9491	pathogenic	-0.745	Destabilizing	1.0	D	0.766	deleterious	None	None	None	None	I
G/P	0.9985	likely_pathogenic	0.9983	pathogenic	-0.571	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/Q	0.9561	likely_pathogenic	0.9631	pathogenic	-1.102	Destabilizing	1.0	D	0.827	deleterious	None	None	None	None	I
G/R	0.9506	likely_pathogenic	0.9573	pathogenic	-0.683	Destabilizing	1.0	D	0.806	deleterious	D	0.648864055	None	None	I
G/S	0.6288	likely_pathogenic	0.6528	pathogenic	-0.786	Destabilizing	1.0	D	0.773	deleterious	None	None	None	None	I
G/T	0.9205	likely_pathogenic	0.9288	pathogenic	-0.908	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	I
G/V	0.9485	likely_pathogenic	0.9523	pathogenic	-0.571	Destabilizing	1.0	D	0.775	deleterious	D	0.633217942	None	None	I
G/W	0.976	likely_pathogenic	0.9784	pathogenic	-1.464	Destabilizing	1.0	D	0.767	deleterious	None	None	None	None	I
G/Y	0.9794	likely_pathogenic	0.9812	pathogenic	-1.149	Destabilizing	1.0	D	0.817	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.