TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6858	20797;20798;20799	chr2:178725632;178725631;178725630	chr2:179590359;179590358;179590357
N2AB	6541	19846;19847;19848	chr2:178725632;178725631;178725630	chr2:179590359;179590358;179590357
N2A	5614	17065;17066;17067	chr2:178725632;178725631;178725630	chr2:179590359;179590358;179590357
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: S
• RefSeq wild type transcript codon: TCC
• RefSeq wild type template codon: AGG
• Domain: Ig-53
• Domain position: 5
• Structural Position: 5
• Q(SASA): 0.2241
• 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
S/F	rs1031134000	None	0.602	N	0.395	0.227	0.4897983601	gnomAD-4.0.0	6.27089E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	7.28847E-06	0	1.6893E-05

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
S/A	0.0744	likely_benign	0.0752	benign	-0.583	Destabilizing	0.019	N	0.267	neutral	N	0.444227051	None	None	N
S/C	0.1171	likely_benign	0.1104	benign	-0.4	Destabilizing	0.851	D	0.359	neutral	N	0.504872865	None	None	N
S/D	0.2353	likely_benign	0.2631	benign	0.382	Stabilizing	0.104	N	0.266	neutral	None	None	None	None	N
S/E	0.2777	likely_benign	0.3086	benign	0.324	Stabilizing	0.055	N	0.292	neutral	None	None	None	None	N
S/F	0.177	likely_benign	0.1784	benign	-0.986	Destabilizing	0.602	D	0.395	neutral	N	0.504872865	None	None	N
S/G	0.079	likely_benign	0.0769	benign	-0.751	Destabilizing	0.104	N	0.297	neutral	None	None	None	None	N
S/H	0.1805	likely_benign	0.1861	benign	-1.205	Destabilizing	0.667	D	0.371	neutral	None	None	None	None	N
S/I	0.1557	likely_benign	0.1506	benign	-0.261	Destabilizing	0.124	N	0.363	neutral	None	None	None	None	N
S/K	0.2507	likely_benign	0.267	benign	-0.474	Destabilizing	None	N	0.105	neutral	None	None	None	None	N
S/L	0.0985	likely_benign	0.0998	benign	-0.261	Destabilizing	0.055	N	0.355	neutral	None	None	None	None	N
S/M	0.1706	likely_benign	0.1621	benign	-0.029	Destabilizing	0.667	D	0.375	neutral	None	None	None	None	N
S/N	0.0846	likely_benign	0.0824	benign	-0.275	Destabilizing	0.104	N	0.297	neutral	None	None	None	None	N
S/P	0.3776	ambiguous	0.4698	ambiguous	-0.337	Destabilizing	0.301	N	0.341	neutral	N	0.504699507	None	None	N
S/Q	0.2429	likely_benign	0.2475	benign	-0.481	Destabilizing	0.011	N	0.189	neutral	None	None	None	None	N
S/R	0.2006	likely_benign	0.221	benign	-0.334	Destabilizing	0.055	N	0.368	neutral	None	None	None	None	N
S/T	0.0662	likely_benign	0.0638	benign	-0.416	Destabilizing	None	N	0.11	neutral	N	0.440493313	None	None	N
S/V	0.152	likely_benign	0.1478	benign	-0.337	Destabilizing	0.055	N	0.372	neutral	None	None	None	None	N
S/W	0.2459	likely_benign	0.2728	benign	-0.929	Destabilizing	0.958	D	0.433	neutral	None	None	None	None	N
S/Y	0.1314	likely_benign	0.1386	benign	-0.67	Destabilizing	0.602	D	0.399	neutral	N	0.504699507	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.