TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5669	17230;17231;17232	chr2:178731870;178731869;178731868	chr2:179596597;179596596;179596595
N2AB	5352	16279;16280;16281	chr2:178731870;178731869;178731868	chr2:179596597;179596596;179596595
N2A	4425	13498;13499;13500	chr2:178731870;178731869;178731868	chr2:179596597;179596596;179596595
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: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-40
• Domain position: 33
• Structural Position: 47
• Q(SASA): 0.1825
• 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	rs2080592409	None	0.473	N	0.543	0.302	0.455173453901	gnomAD-4.0.0	7.95684E-06	None	None	None	None	N	None	0	0	None	0	1.38673E-04	None	0	0	0	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	0.0784	likely_benign	0.078	benign	-0.887	Destabilizing	0.01	N	0.195	neutral	N	0.490581082	None	None	N
T/C	0.3278	likely_benign	0.3512	ambiguous	-0.487	Destabilizing	0.995	D	0.552	neutral	None	None	None	None	N
T/D	0.354	ambiguous	0.364	ambiguous	-0.626	Destabilizing	0.704	D	0.515	neutral	None	None	None	None	N
T/E	0.2772	likely_benign	0.2874	benign	-0.502	Destabilizing	0.704	D	0.512	neutral	None	None	None	None	N
T/F	0.1792	likely_benign	0.1963	benign	-0.597	Destabilizing	0.007	N	0.48	neutral	None	None	None	None	N
T/G	0.2489	likely_benign	0.2479	benign	-1.257	Destabilizing	0.329	N	0.487	neutral	None	None	None	None	N
T/H	0.1801	likely_benign	0.1882	benign	-1.362	Destabilizing	0.893	D	0.553	neutral	None	None	None	None	N
T/I	0.1193	likely_benign	0.1354	benign	0.053	Stabilizing	0.473	N	0.543	neutral	N	0.489152731	None	None	N
T/K	0.1904	likely_benign	0.2082	benign	-0.629	Destabilizing	0.031	N	0.335	neutral	None	None	None	None	N
T/L	0.0877	likely_benign	0.0933	benign	0.053	Stabilizing	0.329	N	0.479	neutral	None	None	None	None	N
T/M	0.0808	likely_benign	0.0869	benign	0.081	Stabilizing	0.944	D	0.563	neutral	None	None	None	None	N
T/N	0.1002	likely_benign	0.1023	benign	-0.968	Destabilizing	0.642	D	0.497	neutral	N	0.49159504	None	None	N
T/P	0.4426	ambiguous	0.5268	ambiguous	-0.227	Destabilizing	0.927	D	0.563	neutral	D	0.534653631	None	None	N
T/Q	0.1741	likely_benign	0.1836	benign	-0.855	Destabilizing	0.893	D	0.563	neutral	None	None	None	None	N
T/R	0.1434	likely_benign	0.1544	benign	-0.64	Destabilizing	0.543	D	0.554	neutral	None	None	None	None	N
T/S	0.0852	likely_benign	0.0842	benign	-1.235	Destabilizing	0.01	N	0.209	neutral	N	0.461020514	None	None	N
T/V	0.1123	likely_benign	0.1219	benign	-0.227	Destabilizing	0.495	N	0.427	neutral	None	None	None	None	N
T/W	0.5129	ambiguous	0.529	ambiguous	-0.694	Destabilizing	0.985	D	0.55	neutral	None	None	None	None	N
T/Y	0.2033	likely_benign	0.2104	benign	-0.374	Destabilizing	0.007	N	0.482	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.