TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26580	79963;79964;79965	chr2:178566394;178566393;178566392	chr2:179431121;179431120;179431119
N2AB	24939	75040;75041;75042	chr2:178566394;178566393;178566392	chr2:179431121;179431120;179431119
N2A	24012	72259;72260;72261	chr2:178566394;178566393;178566392	chr2:179431121;179431120;179431119
N2B	17515	52768;52769;52770	chr2:178566394;178566393;178566392	chr2:179431121;179431120;179431119
Novex-1	17640	53143;53144;53145	chr2:178566394;178566393;178566392	chr2:179431121;179431120;179431119
Novex-2	17707	53344;53345;53346	chr2:178566394;178566393;178566392	chr2:179431121;179431120;179431119
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Fn3-81
• Domain position: 94
• Structural Position: 126
• Q(SASA): 0.4264
• 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/I	None	None	0.008	N	0.216	0.118	0.17948927462	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	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
T/A	0.0693	likely_benign	0.0692	benign	-0.571	Destabilizing	0.104	N	0.326	neutral	N	0.479887836	None	None	N
T/C	0.2871	likely_benign	0.2785	benign	-0.36	Destabilizing	0.953	D	0.573	neutral	None	None	None	None	N
T/D	0.32	likely_benign	0.292	benign	0.12	Stabilizing	0.428	N	0.589	neutral	None	None	None	None	N
T/E	0.2587	likely_benign	0.2459	benign	0.064	Stabilizing	0.428	N	0.584	neutral	None	None	None	None	N
T/F	0.1642	likely_benign	0.1578	benign	-0.885	Destabilizing	0.724	D	0.665	prob.neutral	None	None	None	None	N
T/G	0.2162	likely_benign	0.2129	benign	-0.747	Destabilizing	0.428	N	0.602	neutral	None	None	None	None	N
T/H	0.2196	likely_benign	0.2023	benign	-1.022	Destabilizing	0.984	D	0.618	neutral	None	None	None	None	N
T/I	0.0942	likely_benign	0.0922	benign	-0.215	Destabilizing	0.008	N	0.216	neutral	N	0.450368834	None	None	N
T/K	0.1662	likely_benign	0.1624	benign	-0.535	Destabilizing	0.428	N	0.581	neutral	None	None	None	None	N
T/L	0.0735	likely_benign	0.0714	benign	-0.215	Destabilizing	0.023	N	0.283	neutral	None	None	None	None	N
T/M	0.0772	likely_benign	0.073	benign	0.005	Stabilizing	0.063	N	0.284	neutral	None	None	None	None	N
T/N	0.102	likely_benign	0.0939	benign	-0.32	Destabilizing	0.361	N	0.507	neutral	N	0.482912286	None	None	N
T/P	0.0821	likely_benign	0.0767	benign	-0.303	Destabilizing	0.8	D	0.617	neutral	N	0.408587885	None	None	N
T/Q	0.2061	likely_benign	0.1943	benign	-0.55	Destabilizing	0.842	D	0.617	neutral	None	None	None	None	N
T/R	0.152	likely_benign	0.1428	benign	-0.248	Destabilizing	0.842	D	0.619	neutral	None	None	None	None	N
T/S	0.1013	likely_benign	0.0959	benign	-0.581	Destabilizing	0.022	N	0.163	neutral	N	0.420439675	None	None	N
T/V	0.0866	likely_benign	0.0837	benign	-0.303	Destabilizing	0.001	N	0.171	neutral	None	None	None	None	N
T/W	0.5117	ambiguous	0.5104	ambiguous	-0.829	Destabilizing	0.984	D	0.651	prob.neutral	None	None	None	None	N
T/Y	0.2229	likely_benign	0.2208	benign	-0.585	Destabilizing	0.842	D	0.675	prob.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.