TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28641	86146;86147;86148	chr2:178560211;178560210;178560209	chr2:179424938;179424937;179424936
N2AB	27000	81223;81224;81225	chr2:178560211;178560210;178560209	chr2:179424938;179424937;179424936
N2A	26073	78442;78443;78444	chr2:178560211;178560210;178560209	chr2:179424938;179424937;179424936
N2B	19576	58951;58952;58953	chr2:178560211;178560210;178560209	chr2:179424938;179424937;179424936
Novex-1	19701	59326;59327;59328	chr2:178560211;178560210;178560209	chr2:179424938;179424937;179424936
Novex-2	19768	59527;59528;59529	chr2:178560211;178560210;178560209	chr2:179424938;179424937;179424936
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCC
• RefSeq wild type template codon: GGG
• Domain: Fn3-96
• Domain position: 92
• Structural Position: 125
• Q(SASA): 0.586
• 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
P/R	None	None	0.981	N	0.583	0.393	None	gnomAD-4.0.0	1.59126E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85825E-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
P/A	0.079	likely_benign	0.0745	benign	-0.512	Destabilizing	0.022	N	0.33	neutral	N	0.483670008	None	None	N
P/C	0.3741	ambiguous	0.3028	benign	-0.796	Destabilizing	0.999	D	0.655	prob.neutral	None	None	None	None	N
P/D	0.2919	likely_benign	0.2526	benign	-0.085	Destabilizing	0.971	D	0.531	neutral	None	None	None	None	N
P/E	0.2063	likely_benign	0.1826	benign	-0.166	Destabilizing	0.971	D	0.547	neutral	None	None	None	None	N
P/F	0.3437	ambiguous	0.274	benign	-0.565	Destabilizing	0.996	D	0.649	prob.neutral	None	None	None	None	N
P/G	0.23	likely_benign	0.1991	benign	-0.667	Destabilizing	0.825	D	0.455	neutral	None	None	None	None	N
P/H	0.1476	likely_benign	0.1295	benign	-0.094	Destabilizing	0.998	D	0.561	neutral	N	0.475008727	None	None	N
P/I	0.2194	likely_benign	0.1789	benign	-0.241	Destabilizing	0.971	D	0.681	prob.neutral	None	None	None	None	N
P/K	0.2046	likely_benign	0.1792	benign	-0.456	Destabilizing	0.971	D	0.537	neutral	None	None	None	None	N
P/L	0.0966	likely_benign	0.0866	benign	-0.241	Destabilizing	0.961	D	0.624	neutral	N	0.461624505	None	None	N
P/M	0.2305	likely_benign	0.1954	benign	-0.478	Destabilizing	0.999	D	0.56	neutral	None	None	None	None	N
P/N	0.205	likely_benign	0.1748	benign	-0.304	Destabilizing	0.971	D	0.621	neutral	None	None	None	None	N
P/Q	0.1244	likely_benign	0.1133	benign	-0.471	Destabilizing	0.985	D	0.485	neutral	None	None	None	None	N
P/R	0.1523	likely_benign	0.1348	benign	0.012	Stabilizing	0.981	D	0.583	neutral	N	0.504218638	None	None	N
P/S	0.0994	likely_benign	0.089	benign	-0.727	Destabilizing	0.39	N	0.3	neutral	N	0.478762833	None	None	N
P/T	0.0957	likely_benign	0.0845	benign	-0.696	Destabilizing	0.78	D	0.57	neutral	N	0.499522108	None	None	N
P/V	0.1452	likely_benign	0.1266	benign	-0.297	Destabilizing	0.943	D	0.493	neutral	None	None	None	None	N
P/W	0.5491	ambiguous	0.4558	ambiguous	-0.64	Destabilizing	0.999	D	0.521	neutral	None	None	None	None	N
P/Y	0.3152	likely_benign	0.2493	benign	-0.356	Destabilizing	0.999	D	0.647	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.