TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8825	26698;26699;26700	chr2:178714301;178714300;178714299	chr2:179579028;179579027;179579026
N2AB	8508	25747;25748;25749	chr2:178714301;178714300;178714299	chr2:179579028;179579027;179579026
N2A	7581	22966;22967;22968	chr2:178714301;178714300;178714299	chr2:179579028;179579027;179579026
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: S
• RefSeq wild type transcript codon: TCC
• RefSeq wild type template codon: AGG
• Domain: Ig-73
• Domain position: 90
• Structural Position: 175
• Q(SASA): 0.3264
• 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/F	rs2077128629	None	0.017	N	0.417	0.297	0.569067374492	gnomAD-4.0.0	1.59566E-06	None	None	None	None	N	None	0	0	None	0	2.775E-05	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
S/A	0.0706	likely_benign	0.081	benign	-0.686	Destabilizing	None	N	0.091	neutral	N	0.495501234	None	None	N
S/C	0.1318	likely_benign	0.1667	benign	-0.457	Destabilizing	0.981	D	0.453	neutral	N	0.495963133	None	None	N
S/D	0.2801	likely_benign	0.2865	benign	0.234	Stabilizing	0.296	N	0.33	neutral	None	None	None	None	N
S/E	0.3705	ambiguous	0.3633	ambiguous	0.177	Stabilizing	0.37	N	0.307	neutral	None	None	None	None	N
S/F	0.1194	likely_benign	0.1325	benign	-1.082	Destabilizing	0.017	N	0.417	neutral	N	0.488872788	None	None	N
S/G	0.1112	likely_benign	0.12	benign	-0.854	Destabilizing	0.244	N	0.332	neutral	None	None	None	None	N
S/H	0.2133	likely_benign	0.2066	benign	-1.368	Destabilizing	0.957	D	0.473	neutral	None	None	None	None	N
S/I	0.1182	likely_benign	0.1354	benign	-0.357	Destabilizing	0.759	D	0.521	neutral	None	None	None	None	N
S/K	0.4171	ambiguous	0.4136	ambiguous	-0.528	Destabilizing	0.01	N	0.16	neutral	None	None	None	None	N
S/L	0.0738	likely_benign	0.0822	benign	-0.357	Destabilizing	0.394	N	0.502	neutral	None	None	None	None	N
S/M	0.1469	likely_benign	0.1595	benign	-0.064	Destabilizing	0.986	D	0.47	neutral	None	None	None	None	N
S/N	0.1043	likely_benign	0.104	benign	-0.312	Destabilizing	0.001	N	0.193	neutral	None	None	None	None	N
S/P	0.5639	ambiguous	0.6594	pathogenic	-0.437	Destabilizing	0.819	D	0.489	neutral	N	0.506977043	None	None	N
S/Q	0.3396	likely_benign	0.3331	benign	-0.555	Destabilizing	0.917	D	0.397	neutral	None	None	None	None	N
S/R	0.3366	likely_benign	0.324	benign	-0.4	Destabilizing	0.611	D	0.483	neutral	None	None	None	None	N
S/T	0.0616	likely_benign	0.064	benign	-0.455	Destabilizing	None	N	0.091	neutral	N	0.409439687	None	None	N
S/V	0.1268	likely_benign	0.1519	benign	-0.437	Destabilizing	0.37	N	0.523	neutral	None	None	None	None	N
S/W	0.2301	likely_benign	0.2315	benign	-1.0	Destabilizing	0.996	D	0.545	neutral	None	None	None	None	N
S/Y	0.1206	likely_benign	0.1261	benign	-0.751	Destabilizing	0.806	D	0.525	neutral	N	0.489126278	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.