TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5595	17008;17009;17010	chr2:178732186;178732185;178732184	chr2:179596913;179596912;179596911
N2AB	5278	16057;16058;16059	chr2:178732186;178732185;178732184	chr2:179596913;179596912;179596911
N2A	4351	13276;13277;13278	chr2:178732186;178732185;178732184	chr2:179596913;179596912;179596911
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: V
• RefSeq wild type transcript codon: GTG
• RefSeq wild type template codon: CAC
• Domain: Ig-39
• Domain position: 53
• Structural Position: 130
• Q(SASA): 0.5357
• 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
V/M	None	None	0.002	D	0.188	0.108	0.358540694251	gnomAD-4.0.0	1.59122E-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
V/A	0.0755	likely_benign	0.0883	benign	-0.379	Destabilizing	None	N	0.123	neutral	D	0.533846191	None	None	N
V/C	0.4617	ambiguous	0.554	ambiguous	-0.72	Destabilizing	0.356	N	0.307	neutral	None	None	None	None	N
V/D	0.1062	likely_benign	0.121	benign	0.3	Stabilizing	None	N	0.243	neutral	None	None	None	None	N
V/E	0.1011	likely_benign	0.1084	benign	0.212	Stabilizing	0.001	N	0.233	neutral	N	0.450150159	None	None	N
V/F	0.0926	likely_benign	0.1034	benign	-0.471	Destabilizing	0.214	N	0.38	neutral	None	None	None	None	N
V/G	0.0986	likely_benign	0.1123	benign	-0.513	Destabilizing	None	N	0.219	neutral	N	0.485150954	None	None	N
V/H	0.1966	likely_benign	0.2334	benign	-0.017	Destabilizing	0.356	N	0.376	neutral	None	None	None	None	N
V/I	0.0699	likely_benign	0.0744	benign	-0.172	Destabilizing	0.016	N	0.185	neutral	None	None	None	None	N
V/K	0.1256	likely_benign	0.1442	benign	-0.263	Destabilizing	0.016	N	0.291	neutral	None	None	None	None	N
V/L	0.0913	likely_benign	0.106	benign	-0.172	Destabilizing	None	N	0.126	neutral	N	0.456694916	None	None	N
V/M	0.0926	likely_benign	0.1046	benign	-0.394	Destabilizing	0.002	N	0.188	neutral	D	0.534886341	None	None	N
V/N	0.1043	likely_benign	0.1214	benign	-0.126	Destabilizing	0.072	N	0.372	neutral	None	None	None	None	N
V/P	0.3587	ambiguous	0.4578	ambiguous	-0.207	Destabilizing	0.072	N	0.392	neutral	None	None	None	None	N
V/Q	0.1141	likely_benign	0.1255	benign	-0.271	Destabilizing	0.072	N	0.39	neutral	None	None	None	None	N
V/R	0.0972	likely_benign	0.1068	benign	0.127	Stabilizing	None	N	0.218	neutral	None	None	None	None	N
V/S	0.0773	likely_benign	0.0867	benign	-0.572	Destabilizing	0.016	N	0.269	neutral	None	None	None	None	N
V/T	0.0807	likely_benign	0.0877	benign	-0.549	Destabilizing	None	N	0.117	neutral	None	None	None	None	N
V/W	0.4056	ambiguous	0.4735	ambiguous	-0.554	Destabilizing	0.864	D	0.362	neutral	None	None	None	None	N
V/Y	0.2552	likely_benign	0.3094	benign	-0.26	Destabilizing	0.356	N	0.353	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.