TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26392	79399;79400;79401	chr2:178566958;178566957;178566956	chr2:179431685;179431684;179431683
N2AB	24751	74476;74477;74478	chr2:178566958;178566957;178566956	chr2:179431685;179431684;179431683
N2A	23824	71695;71696;71697	chr2:178566958;178566957;178566956	chr2:179431685;179431684;179431683
N2B	17327	52204;52205;52206	chr2:178566958;178566957;178566956	chr2:179431685;179431684;179431683
Novex-1	17452	52579;52580;52581	chr2:178566958;178566957;178566956	chr2:179431685;179431684;179431683
Novex-2	17519	52780;52781;52782	chr2:178566958;178566957;178566956	chr2:179431685;179431684;179431683
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: AGC
• RefSeq wild type template codon: TCG
• Domain: Fn3-80
• Domain position: 7
• Structural Position: 7
• Q(SASA): 0.387
• 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
S/T	None	None	0.042	N	0.269	0.035	0.0401082797425	gnomAD-4.0.0	6.84271E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99546E-07	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
S/A	0.0667	likely_benign	0.0664	benign	-0.269	Destabilizing	None	N	0.073	neutral	None	None	None	None	N
S/C	0.096	likely_benign	0.0831	benign	-0.297	Destabilizing	0.822	D	0.357	neutral	N	0.492103064	None	None	N
S/D	0.2291	likely_benign	0.1865	benign	0.08	Stabilizing	None	N	0.109	neutral	None	None	None	None	N
S/E	0.3279	likely_benign	0.3009	benign	-0.009	Destabilizing	0.001	N	0.075	neutral	None	None	None	None	N
S/F	0.1438	likely_benign	0.1545	benign	-0.79	Destabilizing	0.667	D	0.435	neutral	None	None	None	None	N
S/G	0.07	likely_benign	0.0657	benign	-0.394	Destabilizing	0.019	N	0.244	neutral	N	0.44973358	None	None	N
S/H	0.2525	likely_benign	0.2025	benign	-0.824	Destabilizing	0.497	N	0.379	neutral	None	None	None	None	N
S/I	0.1445	likely_benign	0.1268	benign	-0.075	Destabilizing	0.175	N	0.471	neutral	N	0.486753172	None	None	N
S/K	0.5335	ambiguous	0.4618	ambiguous	-0.538	Destabilizing	0.055	N	0.244	neutral	None	None	None	None	N
S/L	0.0895	likely_benign	0.0941	benign	-0.075	Destabilizing	0.104	N	0.401	neutral	None	None	None	None	N
S/M	0.139	likely_benign	0.1247	benign	0.052	Stabilizing	0.859	D	0.375	neutral	None	None	None	None	N
S/N	0.0814	likely_benign	0.0649	benign	-0.255	Destabilizing	None	N	0.125	neutral	N	0.41477007	None	None	N
S/P	0.2782	likely_benign	0.311	benign	-0.11	Destabilizing	None	N	0.173	neutral	None	None	None	None	N
S/Q	0.326	likely_benign	0.2773	benign	-0.493	Destabilizing	0.22	N	0.261	neutral	None	None	None	None	N
S/R	0.4986	ambiguous	0.4455	ambiguous	-0.286	Destabilizing	0.175	N	0.394	neutral	N	0.462433518	None	None	N
S/T	0.078	likely_benign	0.0754	benign	-0.348	Destabilizing	0.042	N	0.269	neutral	N	0.437633861	None	None	N
S/V	0.1338	likely_benign	0.1228	benign	-0.11	Destabilizing	0.055	N	0.4	neutral	None	None	None	None	N
S/W	0.3133	likely_benign	0.3309	benign	-0.82	Destabilizing	0.958	D	0.457	neutral	None	None	None	None	N
S/Y	0.1354	likely_benign	0.1337	benign	-0.54	Destabilizing	0.859	D	0.435	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.