TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	27523	82792;82793;82794	chr2:178563565;178563564;178563563	chr2:179428292;179428291;179428290
N2AB	25882	77869;77870;77871	chr2:178563565;178563564;178563563	chr2:179428292;179428291;179428290
N2A	24955	75088;75089;75090	chr2:178563565;178563564;178563563	chr2:179428292;179428291;179428290
N2B	18458	55597;55598;55599	chr2:178563565;178563564;178563563	chr2:179428292;179428291;179428290
Novex-1	18583	55972;55973;55974	chr2:178563565;178563564;178563563	chr2:179428292;179428291;179428290
Novex-2	18650	56173;56174;56175	chr2:178563565;178563564;178563563	chr2:179428292;179428291;179428290
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: Fn3-88
• Domain position: 55
• Structural Position: 75
• Q(SASA): 0.3237
• 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/K	None	None	0.101	N	0.367	0.138	0.228597637076	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.66327E-05

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	0.0632	likely_benign	0.0657	benign	-0.332	Destabilizing	0.047	N	0.259	neutral	N	0.431686536	None	None	N
T/C	0.2176	likely_benign	0.2273	benign	-0.213	Destabilizing	0.983	D	0.315	neutral	None	None	None	None	N
T/D	0.3606	ambiguous	0.3608	ambiguous	0.222	Stabilizing	0.418	N	0.33	neutral	None	None	None	None	N
T/E	0.2358	likely_benign	0.2473	benign	0.134	Stabilizing	0.228	N	0.331	neutral	None	None	None	None	N
T/F	0.1377	likely_benign	0.1457	benign	-0.88	Destabilizing	0.836	D	0.383	neutral	None	None	None	None	N
T/G	0.1472	likely_benign	0.1569	benign	-0.436	Destabilizing	0.129	N	0.336	neutral	None	None	None	None	N
T/H	0.1234	likely_benign	0.1253	benign	-0.753	Destabilizing	0.836	D	0.375	neutral	None	None	None	None	N
T/I	0.0875	likely_benign	0.0878	benign	-0.179	Destabilizing	0.523	D	0.373	neutral	N	0.476864253	None	None	N
T/K	0.0924	likely_benign	0.0947	benign	-0.272	Destabilizing	0.101	N	0.367	neutral	N	0.454408681	None	None	N
T/L	0.0558	likely_benign	0.0565	benign	-0.179	Destabilizing	0.228	N	0.333	neutral	None	None	None	None	N
T/M	0.0681	likely_benign	0.0695	benign	0.018	Stabilizing	0.94	D	0.335	neutral	None	None	None	None	N
T/N	0.09	likely_benign	0.0862	benign	-0.004	Destabilizing	0.264	N	0.265	neutral	None	None	None	None	N
T/P	0.0529	likely_benign	0.056	benign	-0.203	Destabilizing	0.001	N	0.188	neutral	N	0.376371971	None	None	N
T/Q	0.1099	likely_benign	0.1165	benign	-0.263	Destabilizing	0.418	N	0.361	neutral	None	None	None	None	N
T/R	0.0707	likely_benign	0.0739	benign	-0.017	Destabilizing	None	N	0.189	neutral	N	0.401478273	None	None	N
T/S	0.0936	likely_benign	0.0973	benign	-0.222	Destabilizing	0.003	N	0.117	neutral	N	0.429974383	None	None	N
T/V	0.0797	likely_benign	0.081	benign	-0.203	Destabilizing	0.418	N	0.273	neutral	None	None	None	None	N
T/W	0.3217	likely_benign	0.3484	ambiguous	-0.88	Destabilizing	0.983	D	0.399	neutral	None	None	None	None	N
T/Y	0.1469	likely_benign	0.1527	benign	-0.59	Destabilizing	0.94	D	0.379	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.