TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	24278	73057;73058;73059	chr2:178573300;178573299;178573298	chr2:179438027;179438026;179438025
N2AB	22637	68134;68135;68136	chr2:178573300;178573299;178573298	chr2:179438027;179438026;179438025
N2A	21710	65353;65354;65355	chr2:178573300;178573299;178573298	chr2:179438027;179438026;179438025
N2B	15213	45862;45863;45864	chr2:178573300;178573299;178573298	chr2:179438027;179438026;179438025
Novex-1	15338	46237;46238;46239	chr2:178573300;178573299;178573298	chr2:179438027;179438026;179438025
Novex-2	15405	46438;46439;46440	chr2:178573300;178573299;178573298	chr2:179438027;179438026;179438025
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: Fn3-64
• Domain position: 57
• Structural Position: 83
• Q(SASA): 0.6282
• 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	0.988	N	0.699	0.376	0.378674557249	gnomAD-4.0.0	6.99078E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.12241E-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	0.0892	likely_benign	0.0824	benign	-0.808	Destabilizing	0.067	N	0.241	neutral	N	0.502648132	None	None	N
T/C	0.361	ambiguous	0.3275	benign	-0.501	Destabilizing	0.999	D	0.671	neutral	None	None	None	None	N
T/D	0.4563	ambiguous	0.4097	ambiguous	-0.039	Destabilizing	0.995	D	0.698	prob.neutral	None	None	None	None	N
T/E	0.3591	ambiguous	0.3218	benign	-0.015	Destabilizing	0.991	D	0.672	neutral	None	None	None	None	N
T/F	0.2674	likely_benign	0.227	benign	-0.839	Destabilizing	0.995	D	0.689	prob.neutral	None	None	None	None	N
T/G	0.1816	likely_benign	0.1653	benign	-1.083	Destabilizing	0.938	D	0.593	neutral	None	None	None	None	N
T/H	0.2088	likely_benign	0.1873	benign	-1.271	Destabilizing	1.0	D	0.667	neutral	None	None	None	None	N
T/I	0.2119	likely_benign	0.1916	benign	-0.162	Destabilizing	0.988	D	0.699	prob.neutral	N	0.483440014	None	None	N
T/K	0.1532	likely_benign	0.138	benign	-0.661	Destabilizing	0.991	D	0.657	neutral	None	None	None	None	N
T/L	0.0989	likely_benign	0.0896	benign	-0.162	Destabilizing	0.938	D	0.584	neutral	None	None	None	None	N
T/M	0.096	likely_benign	0.0894	benign	-0.052	Destabilizing	1.0	D	0.681	prob.neutral	None	None	None	None	N
T/N	0.1143	likely_benign	0.1057	benign	-0.663	Destabilizing	0.994	D	0.632	neutral	N	0.502130844	None	None	N
T/P	0.0961	likely_benign	0.0886	benign	-0.345	Destabilizing	0.994	D	0.701	prob.neutral	N	0.47305873	None	None	N
T/Q	0.1964	likely_benign	0.1761	benign	-0.732	Destabilizing	0.995	D	0.702	prob.neutral	None	None	None	None	N
T/R	0.1416	likely_benign	0.1224	benign	-0.485	Destabilizing	0.995	D	0.695	prob.neutral	None	None	None	None	N
T/S	0.1032	likely_benign	0.0964	benign	-0.956	Destabilizing	0.919	D	0.403	neutral	N	0.467786196	None	None	N
T/V	0.1536	likely_benign	0.1411	benign	-0.345	Destabilizing	0.938	D	0.473	neutral	None	None	None	None	N
T/W	0.5498	ambiguous	0.4738	ambiguous	-0.809	Destabilizing	1.0	D	0.689	prob.neutral	None	None	None	None	N
T/Y	0.2722	likely_benign	0.2399	benign	-0.558	Destabilizing	0.998	D	0.688	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.