TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15918	47977;47978;47979	chr2:178617333;178617332;178617331	chr2:179482060;179482059;179482058
N2AB	14277	43054;43055;43056	chr2:178617333;178617332;178617331	chr2:179482060;179482059;179482058
N2A	13350	40273;40274;40275	chr2:178617333;178617332;178617331	chr2:179482060;179482059;179482058
N2B	6853	20782;20783;20784	chr2:178617333;178617332;178617331	chr2:179482060;179482059;179482058
Novex-1	6978	21157;21158;21159	chr2:178617333;178617332;178617331	chr2:179482060;179482059;179482058
Novex-2	7045	21358;21359;21360	chr2:178617333;178617332;178617331	chr2:179482060;179482059;179482058
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: Fn3-3
• Domain position: 60
• Structural Position: 90
• Q(SASA): 0.2139
• 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/P	None	None	0.996	D	0.515	0.359	0.475895305069	gnomAD-4.0.0	7.02917E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.12137E-07	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	0.0978	likely_benign	0.1036	benign	-0.764	Destabilizing	0.906	D	0.431	neutral	N	0.484696162	None	None	N
T/C	0.3188	likely_benign	0.3405	ambiguous	-0.44	Destabilizing	0.999	D	0.509	neutral	None	None	None	None	N
T/D	0.3749	ambiguous	0.3956	ambiguous	-0.63	Destabilizing	0.997	D	0.529	neutral	None	None	None	None	N
T/E	0.2498	likely_benign	0.2697	benign	-0.467	Destabilizing	0.997	D	0.507	neutral	None	None	None	None	N
T/F	0.1988	likely_benign	0.2328	benign	-0.567	Destabilizing	0.02	N	0.388	neutral	None	None	None	None	N
T/G	0.2799	likely_benign	0.3057	benign	-1.149	Destabilizing	0.99	D	0.501	neutral	None	None	None	None	N
T/H	0.2082	likely_benign	0.2217	benign	-1.21	Destabilizing	0.999	D	0.549	neutral	None	None	None	None	N
T/I	0.1406	likely_benign	0.1648	benign	0.225	Stabilizing	0.852	D	0.425	neutral	N	0.519595938	None	None	N
T/K	0.2082	likely_benign	0.2058	benign	-0.296	Destabilizing	0.997	D	0.497	neutral	None	None	None	None	N
T/L	0.1196	likely_benign	0.1327	benign	0.225	Stabilizing	0.046	N	0.273	neutral	None	None	None	None	N
T/M	0.104	likely_benign	0.1121	benign	0.119	Stabilizing	0.982	D	0.523	neutral	None	None	None	None	N
T/N	0.1104	likely_benign	0.1266	benign	-0.836	Destabilizing	0.996	D	0.478	neutral	N	0.483803182	None	None	N
T/P	0.5089	ambiguous	0.4665	ambiguous	-0.072	Destabilizing	0.996	D	0.515	neutral	D	0.551376207	None	None	N
T/Q	0.1999	likely_benign	0.2054	benign	-0.643	Destabilizing	0.997	D	0.529	neutral	None	None	None	None	N
T/R	0.1743	likely_benign	0.1623	benign	-0.419	Destabilizing	0.997	D	0.519	neutral	None	None	None	None	N
T/S	0.1034	likely_benign	0.118	benign	-1.117	Destabilizing	0.986	D	0.41	neutral	N	0.450108393	None	None	N
T/V	0.1221	likely_benign	0.1485	benign	-0.072	Destabilizing	0.759	D	0.433	neutral	None	None	None	None	N
T/W	0.5107	ambiguous	0.5172	ambiguous	-0.72	Destabilizing	0.999	D	0.545	neutral	None	None	None	None	N
T/Y	0.2134	likely_benign	0.2327	benign	-0.322	Destabilizing	0.964	D	0.539	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.