TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17319	52180;52181;52182	chr2:178609355;178609354;178609353	chr2:179474082;179474081;179474080
N2AB	15678	47257;47258;47259	chr2:178609355;178609354;178609353	chr2:179474082;179474081;179474080
N2A	14751	44476;44477;44478	chr2:178609355;178609354;178609353	chr2:179474082;179474081;179474080
N2B	8254	24985;24986;24987	chr2:178609355;178609354;178609353	chr2:179474082;179474081;179474080
Novex-1	8379	25360;25361;25362	chr2:178609355;178609354;178609353	chr2:179474082;179474081;179474080
Novex-2	8446	25561;25562;25563	chr2:178609355;178609354;178609353	chr2:179474082;179474081;179474080
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-112
• Domain position: 69
• Structural Position: 101
• Q(SASA): 0.3837
• 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/A	None	None	0.047	N	0.186	0.026	0.12205267543	gnomAD-4.0.0	3.18938E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.72846E-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	0.1003	likely_benign	0.0894	benign	-0.857	Destabilizing	0.047	N	0.186	neutral	N	0.482162924	None	None	N
T/C	0.3936	ambiguous	0.39	ambiguous	-0.671	Destabilizing	0.94	D	0.315	neutral	None	None	None	None	N
T/D	0.2598	likely_benign	0.2328	benign	-0.67	Destabilizing	0.129	N	0.319	neutral	None	None	None	None	N
T/E	0.255	likely_benign	0.2062	benign	-0.608	Destabilizing	0.129	N	0.303	neutral	None	None	None	None	N
T/F	0.2611	likely_benign	0.2069	benign	-0.667	Destabilizing	0.836	D	0.487	neutral	None	None	None	None	N
T/G	0.1834	likely_benign	0.1683	benign	-1.183	Destabilizing	0.129	N	0.237	neutral	None	None	None	None	N
T/H	0.1842	likely_benign	0.1444	benign	-1.442	Destabilizing	0.836	D	0.405	neutral	None	None	None	None	N
T/I	0.2397	likely_benign	0.1861	benign	-0.057	Destabilizing	0.007	N	0.123	neutral	N	0.4644283	None	None	N
T/K	0.2042	likely_benign	0.1606	benign	-0.91	Destabilizing	0.001	N	0.089	neutral	N	0.481816207	None	None	N
T/L	0.1155	likely_benign	0.0929	benign	-0.057	Destabilizing	0.061	N	0.254	neutral	None	None	None	None	N
T/M	0.1379	likely_benign	0.1204	benign	0.087	Stabilizing	0.836	D	0.327	neutral	None	None	None	None	N
T/N	0.1001	likely_benign	0.0915	benign	-1.052	Destabilizing	0.004	N	0.043	neutral	None	None	None	None	N
T/P	0.0775	likely_benign	0.0614	benign	-0.29	Destabilizing	0.001	N	0.061	neutral	N	0.470561851	None	None	N
T/Q	0.182	likely_benign	0.1484	benign	-1.09	Destabilizing	0.264	N	0.385	neutral	None	None	None	None	N
T/R	0.1712	likely_benign	0.1393	benign	-0.786	Destabilizing	0.213	N	0.361	neutral	N	0.505405143	None	None	N
T/S	0.0918	likely_benign	0.0863	benign	-1.288	Destabilizing	0.003	N	0.053	neutral	N	0.434808907	None	None	N
T/V	0.1905	likely_benign	0.1537	benign	-0.29	Destabilizing	0.004	N	0.077	neutral	None	None	None	None	N
T/W	0.5209	ambiguous	0.4683	ambiguous	-0.672	Destabilizing	0.983	D	0.399	neutral	None	None	None	None	N
T/Y	0.2702	likely_benign	0.2216	benign	-0.418	Destabilizing	0.94	D	0.479	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.