TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9032	27319;27320;27321	chr2:178712931;178712930;178712929	chr2:179577658;179577657;179577656
N2AB	8715	26368;26369;26370	chr2:178712931;178712930;178712929	chr2:179577658;179577657;179577656
N2A	7788	23587;23588;23589	chr2:178712931;178712930;178712929	chr2:179577658;179577657;179577656
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-76
• Domain position: 14
• Structural Position: 23
• Q(SASA): 0.6159
• 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/P	None	None	0.001	N	0.09	0.18	0.144782658237	gnomAD-4.0.0	3.42281E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	4.49869E-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	0.0604	likely_benign	0.0616	benign	-0.684	Destabilizing	0.139	N	0.184	neutral	N	0.363007524	None	None	N
T/C	0.3278	likely_benign	0.322	benign	-0.382	Destabilizing	0.981	D	0.273	neutral	None	None	None	None	N
T/D	0.2912	likely_benign	0.3028	benign	0.133	Stabilizing	0.495	N	0.311	neutral	None	None	None	None	N
T/E	0.1754	likely_benign	0.1969	benign	0.096	Stabilizing	0.329	N	0.332	neutral	None	None	None	None	N
T/F	0.1996	likely_benign	0.2257	benign	-0.952	Destabilizing	0.893	D	0.358	neutral	None	None	None	None	N
T/G	0.2145	likely_benign	0.2124	benign	-0.888	Destabilizing	0.329	N	0.319	neutral	None	None	None	None	N
T/H	0.1853	likely_benign	0.1968	benign	-1.18	Destabilizing	0.944	D	0.293	neutral	None	None	None	None	N
T/I	0.109	likely_benign	0.1195	benign	-0.25	Destabilizing	0.473	N	0.341	neutral	N	0.413687061	None	None	N
T/K	0.147	likely_benign	0.1637	benign	-0.523	Destabilizing	0.329	N	0.295	neutral	None	None	None	None	N
T/L	0.0773	likely_benign	0.0809	benign	-0.25	Destabilizing	0.329	N	0.303	neutral	None	None	None	None	N
T/M	0.0753	likely_benign	0.0791	benign	0.031	Stabilizing	0.085	N	0.182	neutral	None	None	None	None	N
T/N	0.1096	likely_benign	0.1121	benign	-0.365	Destabilizing	0.642	D	0.199	neutral	N	0.469407058	None	None	N
T/P	0.062	likely_benign	0.0627	benign	-0.364	Destabilizing	0.001	N	0.09	neutral	N	0.325414715	None	None	N
T/Q	0.153	likely_benign	0.1633	benign	-0.576	Destabilizing	0.085	N	0.148	neutral	None	None	None	None	N
T/R	0.1084	likely_benign	0.1253	benign	-0.269	Destabilizing	0.704	D	0.341	neutral	None	None	None	None	N
T/S	0.0897	likely_benign	0.0898	benign	-0.661	Destabilizing	0.01	N	0.097	neutral	N	0.403702141	None	None	N
T/V	0.1029	likely_benign	0.1105	benign	-0.364	Destabilizing	0.329	N	0.202	neutral	None	None	None	None	N
T/W	0.4671	ambiguous	0.5025	ambiguous	-0.878	Destabilizing	0.995	D	0.293	neutral	None	None	None	None	N
T/Y	0.2044	likely_benign	0.2362	benign	-0.633	Destabilizing	0.981	D	0.349	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.