TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5960	18103;18104;18105	chr2:178730655;178730654;178730653	chr2:179595382;179595381;179595380
N2AB	5643	17152;17153;17154	chr2:178730655;178730654;178730653	chr2:179595382;179595381;179595380
N2A	4716	14371;14372;14373	chr2:178730655;178730654;178730653	chr2:179595382;179595381;179595380
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: TCA
• RefSeq wild type template codon: AGT
• Domain: Ig-43
• Domain position: 42
• Structural Position: 59
• Q(SASA): 0.5748
• 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/A	None	None	0.001	N	0.189	0.049	0.119812018005	gnomAD-4.0.0	1.5915E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85883E-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
S/A	0.0563	likely_benign	0.0549	benign	-0.334	Destabilizing	0.001	N	0.189	neutral	N	0.499522974	None	None	N
S/C	0.1319	likely_benign	0.1135	benign	-0.499	Destabilizing	0.245	N	0.323	neutral	None	None	None	None	N
S/D	0.2303	likely_benign	0.2055	benign	0.432	Stabilizing	0.009	N	0.186	neutral	None	None	None	None	N
S/E	0.236	likely_benign	0.2048	benign	0.368	Stabilizing	None	N	0.151	neutral	None	None	None	None	N
S/F	0.108	likely_benign	0.0998	benign	-1.044	Destabilizing	0.022	N	0.455	neutral	None	None	None	None	N
S/G	0.0933	likely_benign	0.0875	benign	-0.418	Destabilizing	0.018	N	0.17	neutral	None	None	None	None	N
S/H	0.1612	likely_benign	0.1344	benign	-0.644	Destabilizing	0.245	N	0.311	neutral	None	None	None	None	N
S/I	0.079	likely_benign	0.0753	benign	-0.238	Destabilizing	0.009	N	0.375	neutral	None	None	None	None	N
S/K	0.2294	likely_benign	0.1878	benign	-0.223	Destabilizing	0.009	N	0.18	neutral	None	None	None	None	N
S/L	0.0546	likely_benign	0.0515	benign	-0.238	Destabilizing	None	N	0.156	neutral	N	0.46356496	None	None	N
S/M	0.1138	likely_benign	0.1026	benign	-0.407	Destabilizing	0.138	N	0.327	neutral	None	None	None	None	N
S/N	0.1031	likely_benign	0.0966	benign	-0.187	Destabilizing	0.018	N	0.201	neutral	None	None	None	None	N
S/P	0.0893	likely_benign	0.0792	benign	-0.244	Destabilizing	None	N	0.204	neutral	N	0.47541675	None	None	N
S/Q	0.2113	likely_benign	0.1777	benign	-0.279	Destabilizing	0.001	N	0.139	neutral	None	None	None	None	N
S/R	0.2138	likely_benign	0.1747	benign	-0.051	Destabilizing	0.044	N	0.367	neutral	None	None	None	None	N
S/T	0.0569	likely_benign	0.0543	benign	-0.263	Destabilizing	None	N	0.099	neutral	N	0.428316236	None	None	N
S/V	0.0837	likely_benign	0.0789	benign	-0.244	Destabilizing	None	N	0.198	neutral	None	None	None	None	N
S/W	0.1971	likely_benign	0.1832	benign	-1.135	Destabilizing	0.788	D	0.399	neutral	None	None	None	None	N
S/Y	0.123	likely_benign	0.1156	benign	-0.791	Destabilizing	0.245	N	0.455	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.