TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26662	80209;80210;80211	chr2:178566148;178566147;178566146	chr2:179430875;179430874;179430873
N2AB	25021	75286;75287;75288	chr2:178566148;178566147;178566146	chr2:179430875;179430874;179430873
N2A	24094	72505;72506;72507	chr2:178566148;178566147;178566146	chr2:179430875;179430874;179430873
N2B	17597	53014;53015;53016	chr2:178566148;178566147;178566146	chr2:179430875;179430874;179430873
Novex-1	17722	53389;53390;53391	chr2:178566148;178566147;178566146	chr2:179430875;179430874;179430873
Novex-2	17789	53590;53591;53592	chr2:178566148;178566147;178566146	chr2:179430875;179430874;179430873
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: I
• RefSeq wild type transcript codon: ATT
• RefSeq wild type template codon: TAA
• Domain: Ig-138
• Domain position: 69
• Structural Position: 155
• Q(SASA): 0.0969
• 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
I/T	None	None	None	N	0.359	0.058	0.176091768786	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	6.17284E-04	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
I/A	0.4146	ambiguous	0.2749	benign	-1.957	Destabilizing	0.007	N	0.529	neutral	None	None	None	None	N
I/C	0.6028	likely_pathogenic	0.4476	ambiguous	-1.228	Destabilizing	0.356	N	0.629	neutral	None	None	None	None	N
I/D	0.8037	likely_pathogenic	0.6582	pathogenic	-1.511	Destabilizing	0.072	N	0.673	neutral	None	None	None	None	N
I/E	0.665	likely_pathogenic	0.5067	ambiguous	-1.302	Destabilizing	0.072	N	0.662	neutral	None	None	None	None	N
I/F	0.1855	likely_benign	0.1234	benign	-1.013	Destabilizing	0.093	N	0.619	neutral	N	0.495804225	None	None	N
I/G	0.7333	likely_pathogenic	0.5776	pathogenic	-2.48	Highly Destabilizing	0.038	N	0.645	neutral	None	None	None	None	N
I/H	0.434	ambiguous	0.292	benign	-1.881	Destabilizing	0.864	D	0.649	neutral	None	None	None	None	N
I/K	0.4846	ambiguous	0.3407	ambiguous	-1.274	Destabilizing	0.072	N	0.658	neutral	None	None	None	None	N
I/L	0.1282	likely_benign	0.092	benign	-0.474	Destabilizing	None	N	0.161	neutral	N	0.462249012	None	None	N
I/M	0.1156	likely_benign	0.09	benign	-0.493	Destabilizing	0.093	N	0.601	neutral	N	0.486915383	None	None	N
I/N	0.2766	likely_benign	0.1807	benign	-1.505	Destabilizing	0.171	N	0.685	prob.neutral	N	0.46840698	None	None	N
I/P	0.9749	likely_pathogenic	0.9407	pathogenic	-0.945	Destabilizing	0.356	N	0.683	prob.neutral	None	None	None	None	N
I/Q	0.457	ambiguous	0.3163	benign	-1.347	Destabilizing	0.214	N	0.662	neutral	None	None	None	None	N
I/R	0.4008	ambiguous	0.2551	benign	-1.123	Destabilizing	0.214	N	0.676	prob.neutral	None	None	None	None	N
I/S	0.2764	likely_benign	0.176	benign	-2.29	Highly Destabilizing	0.001	N	0.452	neutral	N	0.423306622	None	None	N
I/T	0.1901	likely_benign	0.1169	benign	-1.932	Destabilizing	None	N	0.359	neutral	N	0.351769023	None	None	N
I/V	0.0778	likely_benign	0.0705	benign	-0.945	Destabilizing	None	N	0.152	neutral	N	0.404432859	None	None	N
I/W	0.8083	likely_pathogenic	0.6625	pathogenic	-1.321	Destabilizing	0.864	D	0.664	neutral	None	None	None	None	N
I/Y	0.4672	ambiguous	0.329	benign	-0.994	Destabilizing	0.356	N	0.651	neutral	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.