TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19407	58444;58445;58446	chr2:178594174;178594173;178594172	chr2:179458901;179458900;179458899
N2AB	17766	53521;53522;53523	chr2:178594174;178594173;178594172	chr2:179458901;179458900;179458899
N2A	16839	50740;50741;50742	chr2:178594174;178594173;178594172	chr2:179458901;179458900;179458899
N2B	10342	31249;31250;31251	chr2:178594174;178594173;178594172	chr2:179458901;179458900;179458899
Novex-1	10467	31624;31625;31626	chr2:178594174;178594173;178594172	chr2:179458901;179458900;179458899
Novex-2	10534	31825;31826;31827	chr2:178594174;178594173;178594172	chr2:179458901;179458900;179458899
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-118
• Domain position: 17
• Structural Position: 31
• Q(SASA): 0.2583
• 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	0.295	D	0.532	0.168	0.422404719673	gnomAD-4.0.0	1.59219E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85935E-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	0.087	likely_benign	0.0861	benign	-0.903	Destabilizing	None	N	0.143	neutral	N	0.517455373	None	None	N
T/C	0.3356	likely_benign	0.3228	benign	-0.508	Destabilizing	0.864	D	0.501	neutral	None	None	None	None	N
T/D	0.468	ambiguous	0.4117	ambiguous	0.392	Stabilizing	0.038	N	0.459	neutral	None	None	None	None	N
T/E	0.2806	likely_benign	0.2461	benign	0.433	Stabilizing	0.016	N	0.423	neutral	None	None	None	None	N
T/F	0.254	likely_benign	0.2225	benign	-1.027	Destabilizing	0.628	D	0.553	neutral	None	None	None	None	N
T/G	0.2606	likely_benign	0.2482	benign	-1.172	Destabilizing	0.016	N	0.448	neutral	None	None	None	None	N
T/H	0.2221	likely_benign	0.1967	benign	-1.246	Destabilizing	0.356	N	0.559	neutral	None	None	None	None	N
T/I	0.1531	likely_benign	0.1506	benign	-0.27	Destabilizing	0.295	N	0.532	neutral	D	0.531502106	None	None	N
T/K	0.1557	likely_benign	0.1437	benign	-0.307	Destabilizing	None	N	0.27	neutral	None	None	None	None	N
T/L	0.1027	likely_benign	0.0989	benign	-0.27	Destabilizing	0.072	N	0.445	neutral	None	None	None	None	N
T/M	0.0937	likely_benign	0.0912	benign	-0.215	Destabilizing	0.628	D	0.513	neutral	None	None	None	None	N
T/N	0.1373	likely_benign	0.1277	benign	-0.408	Destabilizing	None	N	0.221	neutral	N	0.489556696	None	None	N
T/P	0.2484	likely_benign	0.2342	benign	-0.449	Destabilizing	0.106	N	0.514	neutral	N	0.46543183	None	None	N
T/Q	0.1908	likely_benign	0.1772	benign	-0.433	Destabilizing	0.003	N	0.343	neutral	None	None	None	None	N
T/R	0.1393	likely_benign	0.1213	benign	-0.193	Destabilizing	0.038	N	0.439	neutral	None	None	None	None	N
T/S	0.1135	likely_benign	0.1062	benign	-0.807	Destabilizing	0.001	N	0.151	neutral	N	0.476358112	None	None	N
T/V	0.1207	likely_benign	0.1217	benign	-0.449	Destabilizing	0.072	N	0.355	neutral	None	None	None	None	N
T/W	0.5531	ambiguous	0.4869	ambiguous	-0.963	Destabilizing	0.864	D	0.587	neutral	None	None	None	None	N
T/Y	0.2578	likely_benign	0.2242	benign	-0.683	Destabilizing	0.628	D	0.556	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.