TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6200	18823;18824;18825	chr2:178729558;178729557;178729556	chr2:179594285;179594284;179594283
N2AB	5883	17872;17873;17874	chr2:178729558;178729557;178729556	chr2:179594285;179594284;179594283
N2A	4956	15091;15092;15093	chr2:178729558;178729557;178729556	chr2:179594285;179594284;179594283
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: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-46
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.4405
• 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	rs1046417798	None	None	N	0.238	0.067	0.21737058555	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	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
T/A	0.0655	likely_benign	0.0661	benign	-0.536	Destabilizing	None	N	0.131	neutral	N	0.460580583	None	None	N
T/C	0.305	likely_benign	0.3323	benign	-0.407	Destabilizing	0.356	N	0.489	neutral	None	None	None	None	N
T/D	0.2704	likely_benign	0.2746	benign	0.435	Stabilizing	0.038	N	0.526	neutral	None	None	None	None	N
T/E	0.2067	likely_benign	0.2005	benign	0.438	Stabilizing	0.038	N	0.465	neutral	None	None	None	None	N
T/F	0.1382	likely_benign	0.146	benign	-0.773	Destabilizing	0.214	N	0.561	neutral	None	None	None	None	N
T/G	0.1727	likely_benign	0.187	benign	-0.761	Destabilizing	0.038	N	0.471	neutral	None	None	None	None	N
T/H	0.1512	likely_benign	0.1614	benign	-0.889	Destabilizing	0.676	D	0.513	neutral	None	None	None	None	N
T/I	0.0951	likely_benign	0.1011	benign	-0.043	Destabilizing	None	N	0.238	neutral	N	0.482169364	None	None	N
T/K	0.1294	likely_benign	0.1256	benign	-0.287	Destabilizing	0.038	N	0.49	neutral	None	None	None	None	N
T/L	0.075	likely_benign	0.0794	benign	-0.043	Destabilizing	0.006	N	0.342	neutral	None	None	None	None	N
T/M	0.0859	likely_benign	0.0903	benign	-0.102	Destabilizing	0.214	N	0.503	neutral	None	None	None	None	N
T/N	0.0949	likely_benign	0.0963	benign	-0.313	Destabilizing	0.029	N	0.464	neutral	N	0.497368103	None	None	N
T/P	0.4383	ambiguous	0.4256	ambiguous	-0.176	Destabilizing	0.171	N	0.567	neutral	N	0.514049709	None	None	N
T/Q	0.1466	likely_benign	0.148	benign	-0.371	Destabilizing	0.214	N	0.555	neutral	None	None	None	None	N
T/R	0.0977	likely_benign	0.0986	benign	-0.122	Destabilizing	0.214	N	0.569	neutral	None	None	None	None	N
T/S	0.0768	likely_benign	0.079	benign	-0.616	Destabilizing	None	N	0.14	neutral	N	0.4429949	None	None	N
T/V	0.0846	likely_benign	0.0898	benign	-0.176	Destabilizing	0.001	N	0.139	neutral	None	None	None	None	N
T/W	0.4354	ambiguous	0.453	ambiguous	-0.778	Destabilizing	0.864	D	0.559	neutral	None	None	None	None	N
T/Y	0.1691	likely_benign	0.1723	benign	-0.477	Destabilizing	0.356	N	0.557	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.