TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3849	11770;11771;11772	chr2:178741688;178741687;178741686	chr2:179606415;179606414;179606413
N2AB	3532	10819;10820;10821	chr2:178741688;178741687;178741686	chr2:179606415;179606414;179606413
N2A	None	None	chr2:None	chr2:None
N2B	3486	10681;10682;10683	chr2:178741688;178741687;178741686	chr2:179606415;179606414;179606413
Novex-1	3611	11056;11057;11058	chr2:178741688;178741687;178741686	chr2:179606415;179606414;179606413
Novex-2	3678	11257;11258;11259	chr2:178741688;178741687;178741686	chr2:179606415;179606414;179606413
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Ig-27
• Domain position: 30
• Structural Position: 44
• Q(SASA): 0.1369
• 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
P/L	rs727503662	None	1.0	D	0.887	0.607	None	gnomAD-4.0.0	2.05263E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.69844E-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
P/A	0.4743	ambiguous	0.4762	ambiguous	-1.842	Destabilizing	1.0	D	0.807	deleterious	D	0.627874288	None	None	N
P/C	0.9463	likely_pathogenic	0.9546	pathogenic	-1.254	Destabilizing	1.0	D	0.833	deleterious	None	None	None	None	N
P/D	0.9835	likely_pathogenic	0.9871	pathogenic	-2.441	Highly Destabilizing	1.0	D	0.88	deleterious	None	None	None	None	N
P/E	0.9402	likely_pathogenic	0.9468	pathogenic	-2.394	Highly Destabilizing	1.0	D	0.874	deleterious	None	None	None	None	N
P/F	0.9858	likely_pathogenic	0.9853	pathogenic	-1.378	Destabilizing	1.0	D	0.884	deleterious	None	None	None	None	N
P/G	0.9064	likely_pathogenic	0.9173	pathogenic	-2.215	Highly Destabilizing	1.0	D	0.85	deleterious	None	None	None	None	N
P/H	0.9409	likely_pathogenic	0.9494	pathogenic	-1.93	Destabilizing	1.0	D	0.873	deleterious	D	0.806622685	None	None	N
P/I	0.8889	likely_pathogenic	0.898	pathogenic	-0.871	Destabilizing	1.0	D	0.899	deleterious	None	None	None	None	N
P/K	0.9657	likely_pathogenic	0.9742	pathogenic	-1.538	Destabilizing	1.0	D	0.879	deleterious	None	None	None	None	N
P/L	0.7018	likely_pathogenic	0.7139	pathogenic	-0.871	Destabilizing	1.0	D	0.887	deleterious	D	0.690035916	None	None	N
P/M	0.9218	likely_pathogenic	0.921	pathogenic	-0.62	Destabilizing	1.0	D	0.869	deleterious	None	None	None	None	N
P/N	0.9661	likely_pathogenic	0.9711	pathogenic	-1.454	Destabilizing	1.0	D	0.903	deleterious	None	None	None	None	N
P/Q	0.8844	likely_pathogenic	0.8971	pathogenic	-1.58	Destabilizing	1.0	D	0.891	deleterious	None	None	None	None	N
P/R	0.9219	likely_pathogenic	0.942	pathogenic	-1.086	Destabilizing	1.0	D	0.903	deleterious	D	0.805813502	None	None	N
P/S	0.8177	likely_pathogenic	0.8323	pathogenic	-1.91	Destabilizing	1.0	D	0.859	deleterious	D	0.690031634	None	None	N
P/T	0.7301	likely_pathogenic	0.7697	pathogenic	-1.761	Destabilizing	1.0	D	0.871	deleterious	D	0.665863911	None	None	N
P/V	0.7866	likely_pathogenic	0.8027	pathogenic	-1.164	Destabilizing	1.0	D	0.896	deleterious	None	None	None	None	N
P/W	0.9929	likely_pathogenic	0.994	pathogenic	-1.737	Destabilizing	1.0	D	0.807	deleterious	None	None	None	None	N
P/Y	0.9797	likely_pathogenic	0.9824	pathogenic	-1.444	Destabilizing	1.0	D	0.889	deleterious	None	None	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.