TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5809	17650;17651;17652	chr2:178731341;178731340;178731339	chr2:179596068;179596067;179596066
N2AB	5492	16699;16700;16701	chr2:178731341;178731340;178731339	chr2:179596068;179596067;179596066
N2A	4565	13918;13919;13920	chr2:178731341;178731340;178731339	chr2:179596068;179596067;179596066
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-41
• Domain position: 80
• Structural Position: 164
• Q(SASA): 0.2508
• 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	rs765643296	None	1.0	D	0.827	0.808	0.704587578234	gnomAD-4.0.0	1.36843E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	1.15939E-05	1.65656E-05

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	0.7767	likely_pathogenic	0.8103	pathogenic	-0.44	Destabilizing	1.0	D	0.742	deleterious	D	0.560671848	None	None	I
G/C	0.9405	likely_pathogenic	0.9577	pathogenic	-0.87	Destabilizing	1.0	D	0.802	deleterious	None	None	None	None	I
G/D	0.9539	likely_pathogenic	0.964	pathogenic	-1.015	Destabilizing	1.0	D	0.847	deleterious	None	None	None	None	I
G/E	0.9665	likely_pathogenic	0.976	pathogenic	-1.183	Destabilizing	1.0	D	0.827	deleterious	D	0.550616109	None	None	I
G/F	0.9871	likely_pathogenic	0.9909	pathogenic	-1.169	Destabilizing	1.0	D	0.833	deleterious	None	None	None	None	I
G/H	0.9844	likely_pathogenic	0.9895	pathogenic	-0.735	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
G/I	0.9816	likely_pathogenic	0.9891	pathogenic	-0.561	Destabilizing	1.0	D	0.837	deleterious	None	None	None	None	I
G/K	0.9845	likely_pathogenic	0.9887	pathogenic	-1.078	Destabilizing	1.0	D	0.827	deleterious	None	None	None	None	I
G/L	0.9821	likely_pathogenic	0.9864	pathogenic	-0.561	Destabilizing	1.0	D	0.822	deleterious	None	None	None	None	I
G/M	0.9852	likely_pathogenic	0.9902	pathogenic	-0.502	Destabilizing	1.0	D	0.8	deleterious	None	None	None	None	I
G/N	0.9541	likely_pathogenic	0.9659	pathogenic	-0.655	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
G/P	0.9989	likely_pathogenic	0.9993	pathogenic	-0.487	Destabilizing	1.0	D	0.849	deleterious	None	None	None	None	I
G/Q	0.9693	likely_pathogenic	0.9794	pathogenic	-0.99	Destabilizing	1.0	D	0.85	deleterious	None	None	None	None	I
G/R	0.9565	likely_pathogenic	0.9678	pathogenic	-0.539	Destabilizing	1.0	D	0.854	deleterious	D	0.592912374	None	None	I
G/S	0.6792	likely_pathogenic	0.7276	pathogenic	-0.737	Destabilizing	1.0	D	0.796	deleterious	None	None	None	None	I
G/T	0.9294	likely_pathogenic	0.9509	pathogenic	-0.85	Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	I
G/V	0.9567	likely_pathogenic	0.973	pathogenic	-0.487	Destabilizing	1.0	D	0.826	deleterious	D	0.609769312	None	None	I
G/W	0.9814	likely_pathogenic	0.9865	pathogenic	-1.324	Destabilizing	1.0	D	0.806	deleterious	None	None	None	None	I
G/Y	0.9816	likely_pathogenic	0.9859	pathogenic	-0.997	Destabilizing	1.0	D	0.832	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.