TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	21495	64708;64709;64710	chr2:178585261;178585260;178585259	chr2:179449988;179449987;179449986
N2AB	19854	59785;59786;59787	chr2:178585261;178585260;178585259	chr2:179449988;179449987;179449986
N2A	18927	57004;57005;57006	chr2:178585261;178585260;178585259	chr2:179449988;179449987;179449986
N2B	12430	37513;37514;37515	chr2:178585261;178585260;178585259	chr2:179449988;179449987;179449986
Novex-1	12555	37888;37889;37890	chr2:178585261;178585260;178585259	chr2:179449988;179449987;179449986
Novex-2	12622	38089;38090;38091	chr2:178585261;178585260;178585259	chr2:179449988;179449987;179449986
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Ig-124
• Domain position: 27
• Structural Position: 43
• Q(SASA): 0.5609
• 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
H/Y	None	None	None	N	0.109	0.067	0.107399877778	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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
H/A	0.0985	likely_benign	0.0909	benign	0.423	Stabilizing	None	N	0.157	neutral	None	None	None	None	I
H/C	0.1163	likely_benign	0.1027	benign	0.938	Stabilizing	0.497	N	0.529	neutral	None	None	None	None	I
H/D	0.1834	likely_benign	0.1618	benign	0.198	Stabilizing	0.003	N	0.353	neutral	N	0.441973393	None	None	I
H/E	0.1966	likely_benign	0.1783	benign	0.216	Stabilizing	0.004	N	0.154	neutral	None	None	None	None	I
H/F	0.155	likely_benign	0.1451	benign	0.969	Stabilizing	0.022	N	0.468	neutral	None	None	None	None	I
H/G	0.2052	likely_benign	0.1817	benign	0.144	Stabilizing	0.002	N	0.323	neutral	None	None	None	None	I
H/I	0.1221	likely_benign	0.1137	benign	1.126	Stabilizing	0.009	N	0.457	neutral	None	None	None	None	I
H/K	0.1317	likely_benign	0.1216	benign	0.42	Stabilizing	0.004	N	0.299	neutral	None	None	None	None	I
H/L	0.0653	likely_benign	0.0613	benign	1.126	Stabilizing	0.003	N	0.361	neutral	N	0.410941197	None	None	I
H/M	0.2037	likely_benign	0.189	benign	0.911	Stabilizing	0.245	N	0.529	neutral	None	None	None	None	I
H/N	0.0719	likely_benign	0.0692	benign	0.522	Stabilizing	None	N	0.089	neutral	N	0.439050518	None	None	I
H/P	0.0849	likely_benign	0.0739	benign	0.918	Stabilizing	None	N	0.153	neutral	N	0.381330366	None	None	I
H/Q	0.0972	likely_benign	0.0915	benign	0.609	Stabilizing	None	N	0.081	neutral	N	0.383618523	None	None	I
H/R	0.0854	likely_benign	0.0801	benign	-0.209	Destabilizing	0.007	N	0.237	neutral	N	0.407170173	None	None	I
H/S	0.1036	likely_benign	0.0957	benign	0.612	Stabilizing	None	N	0.153	neutral	None	None	None	None	I
H/T	0.1215	likely_benign	0.1121	benign	0.725	Stabilizing	0.004	N	0.341	neutral	None	None	None	None	I
H/V	0.0955	likely_benign	0.0925	benign	0.918	Stabilizing	None	N	0.176	neutral	None	None	None	None	I
H/W	0.3195	likely_benign	0.2842	benign	0.916	Stabilizing	0.245	N	0.504	neutral	None	None	None	None	I
H/Y	0.0742	likely_benign	0.0701	benign	1.249	Stabilizing	None	N	0.109	neutral	N	0.455174764	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.