TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15217	45874;45875;45876	chr2:178620961;178620960;178620959	chr2:179485688;179485687;179485686
N2AB	13576	40951;40952;40953	chr2:178620961;178620960;178620959	chr2:179485688;179485687;179485686
N2A	12649	38170;38171;38172	chr2:178620961;178620960;178620959	chr2:179485688;179485687;179485686
N2B	6152	18679;18680;18681	chr2:178620961;178620960;178620959	chr2:179485688;179485687;179485686
Novex-1	6277	19054;19055;19056	chr2:178620961;178620960;178620959	chr2:179485688;179485687;179485686
Novex-2	6344	19255;19256;19257	chr2:178620961;178620960;178620959	chr2:179485688;179485687;179485686
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-104
• Domain position: 10
• Structural Position: 13
• Q(SASA): 0.3867
• 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	0.896	N	0.375	0.188	0.422160833541	gnomAD-4.0.0	3.18912E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.72574E-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	0.0906	likely_benign	0.0955	benign	-0.716	Destabilizing	0.201	N	0.377	neutral	N	0.506553931	None	None	N
T/C	0.4172	ambiguous	0.4218	ambiguous	-0.468	Destabilizing	0.992	D	0.375	neutral	None	None	None	None	N
T/D	0.4775	ambiguous	0.4508	ambiguous	0.097	Stabilizing	0.617	D	0.355	neutral	None	None	None	None	N
T/E	0.2763	likely_benign	0.2627	benign	0.155	Stabilizing	0.25	N	0.395	neutral	None	None	None	None	N
T/F	0.251	likely_benign	0.2598	benign	-0.663	Destabilizing	0.972	D	0.445	neutral	None	None	None	None	N
T/G	0.3335	likely_benign	0.3297	benign	-1.022	Destabilizing	0.617	D	0.411	neutral	None	None	None	None	N
T/H	0.2578	likely_benign	0.2659	benign	-1.188	Destabilizing	0.92	D	0.435	neutral	None	None	None	None	N
T/I	0.1126	likely_benign	0.1314	benign	0.021	Stabilizing	0.896	D	0.375	neutral	N	0.494716585	None	None	N
T/K	0.1457	likely_benign	0.14	benign	-0.496	Destabilizing	0.005	N	0.226	neutral	None	None	None	None	N
T/L	0.0958	likely_benign	0.1068	benign	0.021	Stabilizing	0.617	D	0.379	neutral	None	None	None	None	N
T/M	0.0829	likely_benign	0.0907	benign	0.002	Stabilizing	0.92	D	0.377	neutral	None	None	None	None	N
T/N	0.1511	likely_benign	0.1563	benign	-0.592	Destabilizing	0.549	D	0.345	neutral	D	0.571767091	None	None	N
T/P	0.5362	ambiguous	0.5247	ambiguous	-0.191	Destabilizing	0.896	D	0.363	neutral	D	0.571919121	None	None	N
T/Q	0.1716	likely_benign	0.1705	benign	-0.576	Destabilizing	0.021	N	0.195	neutral	None	None	None	None	N
T/R	0.1268	likely_benign	0.1216	benign	-0.443	Destabilizing	0.447	N	0.349	neutral	None	None	None	None	N
T/S	0.142	likely_benign	0.1478	benign	-0.911	Destabilizing	0.201	N	0.425	neutral	D	0.527399943	None	None	N
T/V	0.1143	likely_benign	0.1302	benign	-0.191	Destabilizing	0.617	D	0.337	neutral	None	None	None	None	N
T/W	0.599	likely_pathogenic	0.5866	pathogenic	-0.67	Destabilizing	0.992	D	0.487	neutral	None	None	None	None	N
T/Y	0.2883	likely_benign	0.2886	benign	-0.383	Destabilizing	0.972	D	0.441	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.