TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30116	90571;90572;90573	chr2:178552554;178552553;178552552	chr2:179417281;179417280;179417279
N2AB	28475	85648;85649;85650	chr2:178552554;178552553;178552552	chr2:179417281;179417280;179417279
N2A	27548	82867;82868;82869	chr2:178552554;178552553;178552552	chr2:179417281;179417280;179417279
N2B	21051	63376;63377;63378	chr2:178552554;178552553;178552552	chr2:179417281;179417280;179417279
Novex-1	21176	63751;63752;63753	chr2:178552554;178552553;178552552	chr2:179417281;179417280;179417279
Novex-2	21243	63952;63953;63954	chr2:178552554;178552553;178552552	chr2:179417281;179417280;179417279
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Fn3-107
• Domain position: 87
• Structural Position: 122
• Q(SASA): 0.4105
• 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
T/I	None	None	None	N	0.319	0.136	0.199424873507	gnomAD-4.0.0	1.59132E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85811E-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
T/A	0.0754	likely_benign	0.0693	benign	-0.749	Destabilizing	0.006	N	0.414	neutral	N	0.469028629	None	None	N
T/C	0.2821	likely_benign	0.2432	benign	-0.473	Destabilizing	0.492	N	0.373	neutral	None	None	None	None	N
T/D	0.3208	likely_benign	0.2552	benign	0.09	Stabilizing	0.018	N	0.489	neutral	None	None	None	None	N
T/E	0.2126	likely_benign	0.1889	benign	0.15	Stabilizing	0.007	N	0.389	neutral	None	None	None	None	N
T/F	0.1736	likely_benign	0.131	benign	-0.793	Destabilizing	0.112	N	0.593	neutral	None	None	None	None	N
T/G	0.2393	likely_benign	0.191	benign	-1.033	Destabilizing	0.018	N	0.525	neutral	None	None	None	None	N
T/H	0.2061	likely_benign	0.1662	benign	-1.059	Destabilizing	None	N	0.424	neutral	None	None	None	None	N
T/I	0.0885	likely_benign	0.0811	benign	-0.07	Destabilizing	None	N	0.319	neutral	N	0.468362909	None	None	N
T/K	0.1777	likely_benign	0.1605	benign	-0.376	Destabilizing	0.018	N	0.431	neutral	None	None	None	None	N
T/L	0.071	likely_benign	0.0669	benign	-0.07	Destabilizing	0.003	N	0.395	neutral	None	None	None	None	N
T/M	0.0747	likely_benign	0.0709	benign	-0.147	Destabilizing	0.003	N	0.354	neutral	None	None	None	None	N
T/N	0.1059	likely_benign	0.0894	benign	-0.552	Destabilizing	0.013	N	0.344	neutral	N	0.47922698	None	None	N
T/P	0.1147	likely_benign	0.094	benign	-0.264	Destabilizing	0.026	N	0.552	neutral	N	0.428432801	None	None	N
T/Q	0.1761	likely_benign	0.1609	benign	-0.537	Destabilizing	0.001	N	0.3	neutral	None	None	None	None	N
T/R	0.1651	likely_benign	0.1427	benign	-0.243	Destabilizing	0.035	N	0.518	neutral	None	None	None	None	N
T/S	0.0997	likely_benign	0.0892	benign	-0.874	Destabilizing	None	N	0.203	neutral	N	0.47062614	None	None	N
T/V	0.0786	likely_benign	0.0763	benign	-0.264	Destabilizing	0.003	N	0.415	neutral	None	None	None	None	N
T/W	0.5081	ambiguous	0.3938	ambiguous	-0.816	Destabilizing	0.747	D	0.556	neutral	None	None	None	None	N
T/Y	0.2096	likely_benign	0.1668	benign	-0.507	Destabilizing	0.112	N	0.595	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.