TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5186	15781;15782;15783	chr2:178733833;178733832;178733831	chr2:179598560;179598559;179598558
N2AB	4869	14830;14831;14832	chr2:178733833;178733832;178733831	chr2:179598560;179598559;179598558
N2A	3942	12049;12050;12051	chr2:178733833;178733832;178733831	chr2:179598560;179598559;179598558
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-35
• Domain position: 19
• Structural Position: 29
• Q(SASA): 0.458
• 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/S	None	None	0.016	N	0.357	0.113	0.101711395817	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-05	0	None	0	0	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	0.0861	likely_benign	0.0942	benign	-0.43	Destabilizing	0.201	N	0.472	neutral	N	0.456961125	None	None	N
T/C	0.3474	ambiguous	0.4154	ambiguous	-0.423	Destabilizing	0.992	D	0.543	neutral	None	None	None	None	N
T/D	0.3918	ambiguous	0.4847	ambiguous	0.33	Stabilizing	0.617	D	0.489	neutral	None	None	None	None	N
T/E	0.2386	likely_benign	0.2748	benign	0.352	Stabilizing	0.617	D	0.506	neutral	None	None	None	None	N
T/F	0.1721	likely_benign	0.2024	benign	-0.576	Destabilizing	0.85	D	0.592	neutral	None	None	None	None	N
T/G	0.3047	likely_benign	0.3686	ambiguous	-0.679	Destabilizing	0.447	N	0.517	neutral	None	None	None	None	N
T/H	0.1949	likely_benign	0.2263	benign	-0.849	Destabilizing	0.992	D	0.588	neutral	None	None	None	None	N
T/I	0.1045	likely_benign	0.1187	benign	0.135	Stabilizing	0.004	N	0.401	neutral	N	0.459277953	None	None	N
T/K	0.1608	likely_benign	0.1817	benign	-0.336	Destabilizing	0.009	N	0.357	neutral	None	None	None	None	N
T/L	0.0874	likely_benign	0.0932	benign	0.135	Stabilizing	0.103	N	0.487	neutral	None	None	None	None	N
T/M	0.0819	likely_benign	0.0835	benign	-0.017	Destabilizing	0.85	D	0.554	neutral	None	None	None	None	N
T/N	0.1183	likely_benign	0.1405	benign	-0.406	Destabilizing	0.549	D	0.49	neutral	N	0.453390331	None	None	N
T/P	0.2196	likely_benign	0.2592	benign	-0.02	Destabilizing	0.896	D	0.567	neutral	D	0.625687784	None	None	N
T/Q	0.1757	likely_benign	0.1941	benign	-0.42	Destabilizing	0.85	D	0.569	neutral	None	None	None	None	N
T/R	0.133	likely_benign	0.1458	benign	-0.23	Destabilizing	0.447	N	0.495	neutral	None	None	None	None	N
T/S	0.1035	likely_benign	0.1184	benign	-0.679	Destabilizing	0.016	N	0.357	neutral	N	0.452574579	None	None	N
T/V	0.0963	likely_benign	0.1091	benign	-0.02	Destabilizing	0.103	N	0.533	neutral	None	None	None	None	N
T/W	0.5261	ambiguous	0.5892	pathogenic	-0.622	Destabilizing	0.992	D	0.612	neutral	None	None	None	None	N
T/Y	0.2055	likely_benign	0.2494	benign	-0.306	Destabilizing	0.92	D	0.596	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.