TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31219	93880;93881;93882	chr2:178547971;178547970;178547969	chr2:179412698;179412697;179412696
N2AB	29578	88957;88958;88959	chr2:178547971;178547970;178547969	chr2:179412698;179412697;179412696
N2A	28651	86176;86177;86178	chr2:178547971;178547970;178547969	chr2:179412698;179412697;179412696
N2B	22154	66685;66686;66687	chr2:178547971;178547970;178547969	chr2:179412698;179412697;179412696
Novex-1	22279	67060;67061;67062	chr2:178547971;178547970;178547969	chr2:179412698;179412697;179412696
Novex-2	22346	67261;67262;67263	chr2:178547971;178547970;178547969	chr2:179412698;179412697;179412696
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-151
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.4328
• 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
G/R	rs2154147060	None	0.934	N	0.419	0.295	0.572208630285	gnomAD-4.0.0	2.0529E-06	None	None	None	None	N	None	0	2.23774E-05	None	0	0	None	0	1.73551E-04	8.99539E-07	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
G/A	0.1283	likely_benign	0.1248	benign	-0.537	Destabilizing	0.454	N	0.459	neutral	N	0.490012482	None	None	N
G/C	0.2541	likely_benign	0.2417	benign	-1.186	Destabilizing	0.998	D	0.471	neutral	None	None	None	None	N
G/D	0.209	likely_benign	0.1773	benign	-0.647	Destabilizing	0.016	N	0.275	neutral	None	None	None	None	N
G/E	0.2269	likely_benign	0.1967	benign	-0.776	Destabilizing	0.012	N	0.331	neutral	N	0.471426721	None	None	N
G/F	0.609	likely_pathogenic	0.5964	pathogenic	-1.16	Destabilizing	0.991	D	0.446	neutral	None	None	None	None	N
G/H	0.3893	ambiguous	0.3653	ambiguous	-0.483	Destabilizing	0.974	D	0.429	neutral	None	None	None	None	N
G/I	0.3456	ambiguous	0.345	ambiguous	-0.76	Destabilizing	0.974	D	0.449	neutral	None	None	None	None	N
G/K	0.4569	ambiguous	0.4112	ambiguous	-0.84	Destabilizing	0.728	D	0.374	neutral	None	None	None	None	N
G/L	0.4451	ambiguous	0.4297	ambiguous	-0.76	Destabilizing	0.949	D	0.413	neutral	None	None	None	None	N
G/M	0.4703	ambiguous	0.4561	ambiguous	-0.961	Destabilizing	0.998	D	0.449	neutral	None	None	None	None	N
G/N	0.2322	likely_benign	0.2057	benign	-0.614	Destabilizing	0.067	N	0.249	neutral	None	None	None	None	N
G/P	0.7132	likely_pathogenic	0.7133	pathogenic	-0.666	Destabilizing	0.974	D	0.428	neutral	None	None	None	None	N
G/Q	0.3395	likely_benign	0.3251	benign	-0.816	Destabilizing	0.904	D	0.417	neutral	None	None	None	None	N
G/R	0.338	likely_benign	0.3176	benign	-0.467	Destabilizing	0.934	D	0.419	neutral	N	0.510254468	None	None	N
G/S	0.1009	likely_benign	0.0967	benign	-0.802	Destabilizing	0.172	N	0.175	neutral	None	None	None	None	N
G/T	0.1599	likely_benign	0.151	benign	-0.866	Destabilizing	0.728	D	0.373	neutral	None	None	None	None	N
G/V	0.2187	likely_benign	0.2171	benign	-0.666	Destabilizing	0.966	D	0.41	neutral	N	0.510774543	None	None	N
G/W	0.4557	ambiguous	0.4556	ambiguous	-1.208	Destabilizing	0.998	D	0.514	neutral	None	None	None	None	N
G/Y	0.4667	ambiguous	0.4423	ambiguous	-0.974	Destabilizing	0.991	D	0.446	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.