TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3848	11767;11768;11769	chr2:178741691;178741690;178741689	chr2:179606418;179606417;179606416
N2AB	3531	10816;10817;10818	chr2:178741691;178741690;178741689	chr2:179606418;179606417;179606416
N2A	None	None	chr2:None	chr2:None
N2B	3485	10678;10679;10680	chr2:178741691;178741690;178741689	chr2:179606418;179606417;179606416
Novex-1	3610	11053;11054;11055	chr2:178741691;178741690;178741689	chr2:179606418;179606417;179606416
Novex-2	3677	11254;11255;11256	chr2:178741691;178741690;178741689	chr2:179606418;179606417;179606416
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: K
• RefSeq wild type transcript codon: AAA
• RefSeq wild type template codon: TTT
• Domain: Ig-27
• Domain position: 29
• Structural Position: 43
• Q(SASA): 0.5628
• 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
K/E	None	None	0.22	N	0.604	0.172	None	gnomAD-4.0.0	6.84212E-07	None	None	None	None	I	None	2.98793E-05	0	None	0	0	None	0	0	0	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
K/A	0.3444	ambiguous	0.319	benign	-0.069	Destabilizing	0.072	N	0.641	neutral	None	None	None	None	I
K/C	0.7746	likely_pathogenic	0.7721	pathogenic	-0.168	Destabilizing	0.909	D	0.713	prob.delet.	None	None	None	None	I
K/D	0.6526	likely_pathogenic	0.6132	pathogenic	-0.002	Destabilizing	0.567	D	0.609	neutral	None	None	None	None	I
K/E	0.1876	likely_benign	0.1722	benign	0.052	Stabilizing	0.22	N	0.604	neutral	N	0.478970233	None	None	I
K/F	0.7402	likely_pathogenic	0.7161	pathogenic	0.016	Stabilizing	0.726	D	0.71	prob.delet.	None	None	None	None	I
K/G	0.5833	likely_pathogenic	0.5572	ambiguous	-0.349	Destabilizing	0.272	N	0.647	neutral	None	None	None	None	I
K/H	0.4265	ambiguous	0.3893	ambiguous	-0.647	Destabilizing	0.968	D	0.628	neutral	None	None	None	None	I
K/I	0.3069	likely_benign	0.2894	benign	0.614	Stabilizing	0.124	N	0.665	neutral	N	0.516386	None	None	I
K/L	0.3329	likely_benign	0.3211	benign	0.614	Stabilizing	0.157	N	0.654	neutral	None	None	None	None	I
K/M	0.2375	likely_benign	0.2246	benign	0.27	Stabilizing	0.726	D	0.623	neutral	None	None	None	None	I
K/N	0.4493	ambiguous	0.4042	ambiguous	0.036	Stabilizing	0.497	N	0.565	neutral	N	0.512483151	None	None	I
K/P	0.578	likely_pathogenic	0.5746	pathogenic	0.416	Stabilizing	0.726	D	0.641	neutral	None	None	None	None	I
K/Q	0.1773	likely_benign	0.1598	benign	-0.042	Destabilizing	0.667	D	0.625	neutral	N	0.503072274	None	None	I
K/R	0.0971	likely_benign	0.095	benign	-0.291	Destabilizing	0.22	N	0.564	neutral	N	0.49457471	None	None	I
K/S	0.4452	ambiguous	0.4031	ambiguous	-0.427	Destabilizing	0.157	N	0.583	neutral	None	None	None	None	I
K/T	0.1898	likely_benign	0.1749	benign	-0.203	Destabilizing	0.001	N	0.293	neutral	N	0.499498278	None	None	I
K/V	0.3238	likely_benign	0.303	benign	0.416	Stabilizing	0.005	N	0.437	neutral	None	None	None	None	I
K/W	0.8381	likely_pathogenic	0.8209	pathogenic	0.006	Stabilizing	0.968	D	0.748	deleterious	None	None	None	None	I
K/Y	0.6131	likely_pathogenic	0.5945	pathogenic	0.314	Stabilizing	0.726	D	0.701	prob.neutral	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.