TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7861	23806;23807;23808	chr2:178720061;178720060;178720059	chr2:179584788;179584787;179584786
N2AB	7544	22855;22856;22857	chr2:178720061;178720060;178720059	chr2:179584788;179584787;179584786
N2A	6617	20074;20075;20076	chr2:178720061;178720060;178720059	chr2:179584788;179584787;179584786
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: TCT
• RefSeq wild type template codon: AGA
• Domain: Ig-63
• Domain position: 67
• Structural Position: 148
• Q(SASA): 0.484
• 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
S/A	None	None	None	N	0.109	0.076	0.0551355673512	gnomAD-4.0.0	1.20033E-06	None	None	None	None	I	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
S/A	0.0616	likely_benign	0.0625	benign	-0.221	Destabilizing	None	N	0.109	neutral	N	0.4106309	None	None	I
S/C	0.154	likely_benign	0.1653	benign	-0.24	Destabilizing	None	N	0.205	neutral	N	0.486081408	None	None	I
S/D	0.2357	likely_benign	0.2156	benign	0.026	Stabilizing	0.22	N	0.155	neutral	None	None	None	None	I
S/E	0.3072	likely_benign	0.273	benign	-0.09	Destabilizing	0.22	N	0.121	neutral	None	None	None	None	I
S/F	0.1667	likely_benign	0.1581	benign	-0.976	Destabilizing	0.001	N	0.213	neutral	N	0.463115308	None	None	I
S/G	0.071	likely_benign	0.069	benign	-0.258	Destabilizing	0.055	N	0.187	neutral	None	None	None	None	I
S/H	0.2696	likely_benign	0.2488	benign	-0.668	Destabilizing	0.859	D	0.334	neutral	None	None	None	None	I
S/I	0.1262	likely_benign	0.1232	benign	-0.254	Destabilizing	0.124	N	0.283	neutral	None	None	None	None	I
S/K	0.4033	ambiguous	0.3583	ambiguous	-0.307	Destabilizing	0.22	N	0.119	neutral	None	None	None	None	I
S/L	0.0907	likely_benign	0.092	benign	-0.254	Destabilizing	0.055	N	0.217	neutral	None	None	None	None	I
S/M	0.1861	likely_benign	0.1792	benign	-0.043	Destabilizing	0.667	D	0.327	neutral	None	None	None	None	I
S/N	0.1007	likely_benign	0.0979	benign	-0.037	Destabilizing	0.22	N	0.175	neutral	None	None	None	None	I
S/P	0.145	likely_benign	0.1307	benign	-0.219	Destabilizing	0.301	N	0.366	neutral	N	0.462861818	None	None	I
S/Q	0.3316	likely_benign	0.3054	benign	-0.306	Destabilizing	0.667	D	0.275	neutral	None	None	None	None	I
S/R	0.3317	likely_benign	0.302	benign	-0.071	Destabilizing	0.22	N	0.367	neutral	None	None	None	None	I
S/T	0.0806	likely_benign	0.0797	benign	-0.167	Destabilizing	None	N	0.083	neutral	N	0.438990937	None	None	I
S/V	0.1332	likely_benign	0.1319	benign	-0.219	Destabilizing	0.055	N	0.211	neutral	None	None	None	None	I
S/W	0.2736	likely_benign	0.2617	benign	-1.033	Destabilizing	0.958	D	0.329	neutral	None	None	None	None	I
S/Y	0.1711	likely_benign	0.1688	benign	-0.725	Destabilizing	0.096	N	0.379	neutral	N	0.467723664	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.