TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32354	97285;97286;97287	chr2:178542794;178542793;178542792	chr2:179407521;179407520;179407519
N2AB	30713	92362;92363;92364	chr2:178542794;178542793;178542792	chr2:179407521;179407520;179407519
N2A	29786	89581;89582;89583	chr2:178542794;178542793;178542792	chr2:179407521;179407520;179407519
N2B	23289	70090;70091;70092	chr2:178542794;178542793;178542792	chr2:179407521;179407520;179407519
Novex-1	23414	70465;70466;70467	chr2:178542794;178542793;178542792	chr2:179407521;179407520;179407519
Novex-2	23481	70666;70667;70668	chr2:178542794;178542793;178542792	chr2:179407521;179407520;179407519
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-154
• Domain position: 48
• Structural Position: 122
• Q(SASA): 0.3276
• 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	0.966	N	0.355	0.206	0.490006198212	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	6.07533E-05	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	0.0786	likely_benign	0.0743	benign	-1.002	Destabilizing	0.625	D	0.317	neutral	N	0.461927378	None	None	N
T/C	0.363	ambiguous	0.3187	benign	-0.974	Destabilizing	0.998	D	0.393	neutral	None	None	None	None	N
T/D	0.4122	ambiguous	0.3575	ambiguous	-1.226	Destabilizing	0.842	D	0.333	neutral	None	None	None	None	N
T/E	0.3065	likely_benign	0.2667	benign	-1.176	Destabilizing	0.525	D	0.351	neutral	None	None	None	None	N
T/F	0.2086	likely_benign	0.1712	benign	-1.023	Destabilizing	0.991	D	0.468	neutral	None	None	None	None	N
T/G	0.2377	likely_benign	0.2151	benign	-1.28	Destabilizing	0.842	D	0.425	neutral	None	None	None	None	N
T/H	0.1762	likely_benign	0.1583	benign	-1.52	Destabilizing	0.991	D	0.453	neutral	None	None	None	None	N
T/I	0.1283	likely_benign	0.1104	benign	-0.336	Destabilizing	0.966	D	0.355	neutral	N	0.475627394	None	None	N
T/K	0.1229	likely_benign	0.1129	benign	-0.876	Destabilizing	0.002	N	0.133	neutral	N	0.423656991	None	None	N
T/L	0.0868	likely_benign	0.0769	benign	-0.336	Destabilizing	0.688	D	0.382	neutral	None	None	None	None	N
T/M	0.08	likely_benign	0.0745	benign	-0.096	Destabilizing	0.991	D	0.397	neutral	None	None	None	None	N
T/N	0.13	likely_benign	0.1159	benign	-1.079	Destabilizing	0.842	D	0.322	neutral	None	None	None	None	N
T/P	0.4759	ambiguous	0.4077	ambiguous	-0.528	Destabilizing	0.891	D	0.345	neutral	N	0.483668548	None	None	N
T/Q	0.1695	likely_benign	0.1575	benign	-1.278	Destabilizing	0.842	D	0.355	neutral	None	None	None	None	N
T/R	0.1145	likely_benign	0.1021	benign	-0.64	Destabilizing	0.454	N	0.384	neutral	N	0.44597649	None	None	N
T/S	0.1082	likely_benign	0.1009	benign	-1.289	Destabilizing	0.625	D	0.384	neutral	N	0.434932777	None	None	N
T/V	0.1107	likely_benign	0.0977	benign	-0.528	Destabilizing	0.915	D	0.343	neutral	None	None	None	None	N
T/W	0.4982	ambiguous	0.4399	ambiguous	-0.977	Destabilizing	0.998	D	0.489	neutral	None	None	None	None	N
T/Y	0.2582	likely_benign	0.2263	benign	-0.693	Destabilizing	0.991	D	0.467	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.