TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7386	22381;22382;22383	chr2:178722743;178722742;178722741	chr2:179587470;179587469;179587468
N2AB	7069	21430;21431;21432	chr2:178722743;178722742;178722741	chr2:179587470;179587469;179587468
N2A	6142	18649;18650;18651	chr2:178722743;178722742;178722741	chr2:179587470;179587469;179587468
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: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-58
• Domain position: 64
• Structural Position: 145
• Q(SASA): 0.4804
• Predicted PPI site: I

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
N/S	None	None	None	N	0.121	0.122	0.0482279557977	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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
N/A	0.1235	likely_benign	0.1577	benign	-0.601	Destabilizing	None	N	0.135	neutral	None	None	None	None	I
N/C	0.2308	likely_benign	0.3198	benign	0.238	Stabilizing	0.245	N	0.375	neutral	None	None	None	None	I
N/D	0.0676	likely_benign	0.0805	benign	0.053	Stabilizing	None	N	0.098	neutral	N	0.410826554	None	None	I
N/E	0.212	likely_benign	0.2814	benign	0.086	Stabilizing	None	N	0.146	neutral	None	None	None	None	I
N/F	0.3714	ambiguous	0.4494	ambiguous	-0.66	Destabilizing	0.245	N	0.443	neutral	None	None	None	None	I
N/G	0.1253	likely_benign	0.1723	benign	-0.871	Destabilizing	None	N	0.121	neutral	None	None	None	None	I
N/H	0.0879	likely_benign	0.1013	benign	-0.75	Destabilizing	0.196	N	0.22	neutral	N	0.456753631	None	None	I
N/I	0.1808	likely_benign	0.2242	benign	0.047	Stabilizing	0.007	N	0.385	neutral	N	0.483689516	None	None	I
N/K	0.1849	likely_benign	0.2559	benign	-0.016	Destabilizing	0.007	N	0.185	neutral	N	0.401089563	None	None	I
N/L	0.1727	likely_benign	0.2083	benign	0.047	Stabilizing	0.009	N	0.315	neutral	None	None	None	None	I
N/M	0.2431	likely_benign	0.282	benign	0.424	Stabilizing	0.245	N	0.349	neutral	None	None	None	None	I
N/P	0.6055	likely_pathogenic	0.7275	pathogenic	-0.139	Destabilizing	0.044	N	0.397	neutral	None	None	None	None	I
N/Q	0.1924	likely_benign	0.2511	benign	-0.533	Destabilizing	0.002	N	0.175	neutral	None	None	None	None	I
N/R	0.2038	likely_benign	0.2755	benign	-0.028	Destabilizing	0.018	N	0.157	neutral	None	None	None	None	I
N/S	0.0638	likely_benign	0.0672	benign	-0.471	Destabilizing	None	N	0.121	neutral	N	0.374828468	None	None	I
N/T	0.0957	likely_benign	0.1024	benign	-0.258	Destabilizing	None	N	0.095	neutral	N	0.376540622	None	None	I
N/V	0.1739	likely_benign	0.2196	benign	-0.139	Destabilizing	None	N	0.238	neutral	None	None	None	None	I
N/W	0.5806	likely_pathogenic	0.7141	pathogenic	-0.515	Destabilizing	0.788	D	0.368	neutral	None	None	None	None	I
N/Y	0.1335	likely_benign	0.1806	benign	-0.287	Destabilizing	0.196	N	0.419	neutral	N	0.473992598	None	None	I

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.