TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6112	18559;18560;18561	chr2:178729919;178729918;178729917	chr2:179594646;179594645;179594644
N2AB	5795	17608;17609;17610	chr2:178729919;178729918;178729917	chr2:179594646;179594645;179594644
N2A	4868	14827;14828;14829	chr2:178729919;178729918;178729917	chr2:179594646;179594645;179594644
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: AGT
• RefSeq wild type template codon: TCA
• Domain: Ig-45
• Domain position: 8
• Structural Position: 9
• Q(SASA): 0.5208
• 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/G	None	None	0.625	N	0.264	0.153	0.272205846399	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.66327E-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	0.0851	likely_benign	0.0904	benign	-0.126	Destabilizing	0.029	N	0.077	neutral	None	None	None	None	N
S/C	0.2217	likely_benign	0.205	benign	-0.453	Destabilizing	0.997	D	0.379	neutral	N	0.496812507	None	None	N
S/D	0.1898	likely_benign	0.2314	benign	0.157	Stabilizing	0.728	D	0.254	neutral	None	None	None	None	N
S/E	0.2674	likely_benign	0.3351	benign	0.091	Stabilizing	0.067	N	0.125	neutral	None	None	None	None	N
S/F	0.1537	likely_benign	0.174	benign	-0.776	Destabilizing	0.974	D	0.451	neutral	None	None	None	None	N
S/G	0.1018	likely_benign	0.1132	benign	-0.235	Destabilizing	0.625	D	0.264	neutral	N	0.504142146	None	None	N
S/H	0.2494	likely_benign	0.2829	benign	-0.614	Destabilizing	0.991	D	0.377	neutral	None	None	None	None	N
S/I	0.1313	likely_benign	0.1445	benign	0.027	Stabilizing	0.934	D	0.416	neutral	N	0.506201017	None	None	N
S/K	0.4002	ambiguous	0.4625	ambiguous	-0.382	Destabilizing	0.842	D	0.255	neutral	None	None	None	None	N
S/L	0.0907	likely_benign	0.097	benign	0.027	Stabilizing	0.728	D	0.367	neutral	None	None	None	None	N
S/M	0.2045	likely_benign	0.2206	benign	-0.201	Destabilizing	0.991	D	0.377	neutral	None	None	None	None	N
S/N	0.1033	likely_benign	0.1106	benign	-0.282	Destabilizing	0.801	D	0.333	neutral	N	0.512510914	None	None	N
S/P	0.1111	likely_benign	0.1243	benign	0.005	Stabilizing	0.974	D	0.382	neutral	None	None	None	None	N
S/Q	0.3063	likely_benign	0.3618	ambiguous	-0.395	Destabilizing	0.949	D	0.335	neutral	None	None	None	None	N
S/R	0.3447	ambiguous	0.407	ambiguous	-0.225	Destabilizing	0.934	D	0.382	neutral	N	0.459041788	None	None	N
S/T	0.088	likely_benign	0.0921	benign	-0.283	Destabilizing	0.051	N	0.104	neutral	N	0.478667699	None	None	N
S/V	0.1502	likely_benign	0.1647	benign	0.005	Stabilizing	0.728	D	0.377	neutral	None	None	None	None	N
S/W	0.2636	likely_benign	0.3096	benign	-0.908	Destabilizing	0.998	D	0.504	neutral	None	None	None	None	N
S/Y	0.1543	likely_benign	0.1688	benign	-0.552	Destabilizing	0.991	D	0.448	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.