TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8808	26647;26648;26649	chr2:178714352;178714351;178714350	chr2:179579079;179579078;179579077
N2AB	8491	25696;25697;25698	chr2:178714352;178714351;178714350	chr2:179579079;179579078;179579077
N2A	7564	22915;22916;22917	chr2:178714352;178714351;178714350	chr2:179579079;179579078;179579077
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: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-73
• Domain position: 73
• Structural Position: 155
• Q(SASA): 0.1269
• 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/A	None	None	0.089	N	0.663	0.278	0.322230723748	gnomAD-4.0.0	1.20033E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.31251E-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	0.0851	likely_benign	0.0951	benign	-1.263	Destabilizing	0.089	N	0.663	neutral	N	0.510199598	None	None	N
T/C	0.362	ambiguous	0.4469	ambiguous	-0.636	Destabilizing	0.998	D	0.739	prob.delet.	None	None	None	None	N
T/D	0.5499	ambiguous	0.6905	pathogenic	-1.782	Destabilizing	0.872	D	0.767	deleterious	None	None	None	None	N
T/E	0.4375	ambiguous	0.5562	ambiguous	-1.501	Destabilizing	0.958	D	0.767	deleterious	None	None	None	None	N
T/F	0.168	likely_benign	0.2337	benign	-0.75	Destabilizing	0.988	D	0.805	deleterious	None	None	None	None	N
T/G	0.2936	likely_benign	0.3627	ambiguous	-1.702	Destabilizing	0.942	D	0.735	prob.delet.	None	None	None	None	N
T/H	0.222	likely_benign	0.2849	benign	-1.575	Destabilizing	0.999	D	0.784	deleterious	None	None	None	None	N
T/I	0.0818	likely_benign	0.0925	benign	-0.066	Destabilizing	0.021	N	0.504	neutral	N	0.45883612	None	None	N
T/K	0.2256	likely_benign	0.2953	benign	-0.137	Destabilizing	0.969	D	0.767	deleterious	None	None	None	None	N
T/L	0.0809	likely_benign	0.0959	benign	-0.066	Destabilizing	0.392	N	0.695	prob.neutral	None	None	None	None	N
T/M	0.0844	likely_benign	0.0967	benign	-0.338	Destabilizing	0.969	D	0.77	deleterious	None	None	None	None	N
T/N	0.1501	likely_benign	0.1967	benign	-1.056	Destabilizing	0.837	D	0.728	prob.delet.	N	0.511213556	None	None	N
T/P	0.5581	ambiguous	0.6963	pathogenic	-0.439	Destabilizing	0.913	D	0.786	deleterious	D	0.522823351	None	None	N
T/Q	0.2572	likely_benign	0.3283	benign	-0.65	Destabilizing	0.968	D	0.786	deleterious	None	None	None	None	N
T/R	0.1512	likely_benign	0.1942	benign	-0.592	Destabilizing	0.994	D	0.783	deleterious	None	None	None	None	N
T/S	0.1147	likely_benign	0.1349	benign	-1.257	Destabilizing	0.018	N	0.505	neutral	N	0.510621749	None	None	N
T/V	0.0867	likely_benign	0.0988	benign	-0.439	Destabilizing	0.315	N	0.662	neutral	None	None	None	None	N
T/W	0.5175	ambiguous	0.6447	pathogenic	-0.992	Destabilizing	0.999	D	0.777	deleterious	None	None	None	None	N
T/Y	0.2185	likely_benign	0.2881	benign	-0.574	Destabilizing	0.994	D	0.816	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.