TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5051	15376;15377;15378	chr2:178734773;178734772;178734771	chr2:179599500;179599499;179599498
N2AB	4734	14425;14426;14427	chr2:178734773;178734772;178734771	chr2:179599500;179599499;179599498
N2A	3807	11644;11645;11646	chr2:178734773;178734772;178734771	chr2:179599500;179599499;179599498
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: AGT
• RefSeq wild type template codon: TCA
• Domain: Ig-33
• Domain position: 71
• Structural Position: 153
• Q(SASA): 0.3701
• 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/C	rs2081151606	None	0.612	N	0.522	0.221	0.449860987313	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-05	0	None	0	0	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	0.0918	likely_benign	0.086	benign	-0.824	Destabilizing	0.016	N	0.345	neutral	None	None	None	None	N
S/C	0.1008	likely_benign	0.0991	benign	-0.735	Destabilizing	0.612	D	0.522	neutral	N	0.510244506	None	None	N
S/D	0.2207	likely_benign	0.2074	benign	-1.072	Destabilizing	None	N	0.179	neutral	None	None	None	None	N
S/E	0.3751	ambiguous	0.339	benign	-1.063	Destabilizing	0.016	N	0.426	neutral	None	None	None	None	N
S/F	0.1511	likely_benign	0.1351	benign	-1.213	Destabilizing	0.356	N	0.559	neutral	None	None	None	None	N
S/G	0.0866	likely_benign	0.0865	benign	-1.051	Destabilizing	0.012	N	0.401	neutral	D	0.535436041	None	None	N
S/H	0.1776	likely_benign	0.1503	benign	-1.612	Destabilizing	0.214	N	0.549	neutral	None	None	None	None	N
S/I	0.0883	likely_benign	0.0819	benign	-0.321	Destabilizing	0.093	N	0.578	neutral	N	0.445910984	None	None	N
S/K	0.4167	ambiguous	0.3288	benign	-0.744	Destabilizing	0.016	N	0.431	neutral	None	None	None	None	N
S/L	0.0975	likely_benign	0.0902	benign	-0.321	Destabilizing	0.038	N	0.474	neutral	None	None	None	None	N
S/M	0.1406	likely_benign	0.1409	benign	0.114	Stabilizing	0.356	N	0.543	neutral	None	None	None	None	N
S/N	0.06	likely_benign	0.0613	benign	-0.899	Destabilizing	None	N	0.173	neutral	N	0.473029838	None	None	N
S/P	0.3378	likely_benign	0.2579	benign	-0.457	Destabilizing	0.136	N	0.555	neutral	None	None	None	None	N
S/Q	0.3202	likely_benign	0.2809	benign	-1.132	Destabilizing	0.072	N	0.477	neutral	None	None	None	None	N
S/R	0.3708	ambiguous	0.2793	benign	-0.593	Destabilizing	None	N	0.313	neutral	N	0.468884456	None	None	N
S/T	0.0621	likely_benign	0.0648	benign	-0.816	Destabilizing	None	N	0.167	neutral	N	0.453836081	None	None	N
S/V	0.1129	likely_benign	0.1073	benign	-0.457	Destabilizing	0.038	N	0.497	neutral	None	None	None	None	N
S/W	0.3021	likely_benign	0.2674	benign	-1.213	Destabilizing	0.864	D	0.605	neutral	None	None	None	None	N
S/Y	0.1291	likely_benign	0.1137	benign	-0.9	Destabilizing	0.356	N	0.559	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.