TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9175	27748;27749;27750	chr2:178712399;178712398;178712397	chr2:179577126;179577125;179577124
N2AB	8858	26797;26798;26799	chr2:178712399;178712398;178712397	chr2:179577126;179577125;179577124
N2A	7931	24016;24017;24018	chr2:178712399;178712398;178712397	chr2:179577126;179577125;179577124
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: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-77
• Domain position: 64
• Structural Position: 145
• Q(SASA): 0.2501
• 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/R	rs1438488035	None	None	N	0.238	0.087	0.208000267992	gnomAD-4.0.0	9.57878E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.25923E-05	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	0.0761	likely_benign	0.0734	benign	-0.788	Destabilizing	None	N	0.149	neutral	N	0.493023391	None	None	N
T/C	0.3441	ambiguous	0.3354	benign	-0.404	Destabilizing	0.356	N	0.425	neutral	None	None	None	None	N
T/D	0.2268	likely_benign	0.2167	benign	-0.17	Destabilizing	None	N	0.141	neutral	None	None	None	None	N
T/E	0.1959	likely_benign	0.1999	benign	-0.201	Destabilizing	0.016	N	0.387	neutral	None	None	None	None	N
T/F	0.2025	likely_benign	0.2044	benign	-1.064	Destabilizing	0.214	N	0.514	neutral	None	None	None	None	N
T/G	0.1816	likely_benign	0.1702	benign	-0.999	Destabilizing	0.016	N	0.398	neutral	None	None	None	None	N
T/H	0.1954	likely_benign	0.1937	benign	-1.326	Destabilizing	0.628	D	0.487	neutral	None	None	None	None	N
T/I	0.1502	likely_benign	0.1596	benign	-0.329	Destabilizing	None	N	0.222	neutral	N	0.512902072	None	None	N
T/K	0.1291	likely_benign	0.1366	benign	-0.616	Destabilizing	None	N	0.189	neutral	N	0.505235438	None	None	N
T/L	0.0892	likely_benign	0.0898	benign	-0.329	Destabilizing	0.002	N	0.377	neutral	None	None	None	None	N
T/M	0.0858	likely_benign	0.0824	benign	0.125	Stabilizing	0.002	N	0.325	neutral	None	None	None	None	N
T/N	0.1006	likely_benign	0.0989	benign	-0.491	Destabilizing	0.072	N	0.259	neutral	None	None	None	None	N
T/P	0.3999	ambiguous	0.3526	ambiguous	-0.452	Destabilizing	0.106	N	0.467	neutral	D	0.535868173	None	None	N
T/Q	0.1596	likely_benign	0.163	benign	-0.745	Destabilizing	0.072	N	0.471	neutral	None	None	None	None	N
T/R	0.1045	likely_benign	0.1111	benign	-0.324	Destabilizing	None	N	0.238	neutral	N	0.497637462	None	None	N
T/S	0.084	likely_benign	0.0801	benign	-0.779	Destabilizing	0.001	N	0.155	neutral	N	0.480051779	None	None	N
T/V	0.1162	likely_benign	0.1195	benign	-0.452	Destabilizing	None	N	0.137	neutral	None	None	None	None	N
T/W	0.5285	ambiguous	0.5093	ambiguous	-0.974	Destabilizing	0.864	D	0.478	neutral	None	None	None	None	N
T/Y	0.2596	likely_benign	0.2535	benign	-0.735	Destabilizing	0.356	N	0.507	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.