TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3979	12160;12161;12162	chr2:178741298;178741297;178741296	chr2:179606025;179606024;179606023
N2AB	3662	11209;11210;11211	chr2:178741298;178741297;178741296	chr2:179606025;179606024;179606023
N2A	None	None	chr2:None	chr2:None
N2B	3616	11071;11072;11073	chr2:178741298;178741297;178741296	chr2:179606025;179606024;179606023
Novex-1	3741	11446;11447;11448	chr2:178741298;178741297;178741296	chr2:179606025;179606024;179606023
Novex-2	3808	11647;11648;11649	chr2:178741298;178741297;178741296	chr2:179606025;179606024;179606023
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: C
• RefSeq wild type transcript codon: TGC
• RefSeq wild type template codon: ACG
• Domain: Ig-28
• Domain position: 42
• Structural Position: 59
• Q(SASA): 0.6857
• Predicted PPI site: I

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
C/R	None	None	0.025	N	0.427	0.176	None	gnomAD-4.0.0	8.40227E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	9.18753E-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
C/A	0.3193	likely_benign	0.2469	benign	-0.718	Destabilizing	0.006	N	0.183	neutral	None	None	None	None	I
C/D	0.3266	likely_benign	0.2465	benign	0.592	Stabilizing	0.064	N	0.35	neutral	None	None	None	None	I
C/E	0.4798	ambiguous	0.3742	ambiguous	0.595	Stabilizing	0.015	N	0.339	neutral	None	None	None	None	I
C/F	0.113	likely_benign	0.0984	benign	-0.589	Destabilizing	None	N	0.152	neutral	N	0.420738122	None	None	I
C/G	0.1357	likely_benign	0.1113	benign	-0.888	Destabilizing	0.011	N	0.341	neutral	N	0.425863566	None	None	I
C/H	0.1961	likely_benign	0.1626	benign	-0.756	Destabilizing	0.367	N	0.472	neutral	None	None	None	None	I
C/I	0.3877	ambiguous	0.2998	benign	-0.346	Destabilizing	0.033	N	0.371	neutral	None	None	None	None	I
C/K	0.4407	ambiguous	0.3576	ambiguous	0.064	Stabilizing	0.001	N	0.181	neutral	None	None	None	None	I
C/L	0.3195	likely_benign	0.2596	benign	-0.346	Destabilizing	0.015	N	0.244	neutral	None	None	None	None	I
C/M	0.5696	likely_pathogenic	0.4629	ambiguous	0.068	Stabilizing	0.54	D	0.347	neutral	None	None	None	None	I
C/N	0.2483	likely_benign	0.1963	benign	0.221	Stabilizing	0.033	N	0.403	neutral	None	None	None	None	I
C/P	0.5514	ambiguous	0.3969	ambiguous	-0.445	Destabilizing	0.251	N	0.474	neutral	None	None	None	None	I
C/Q	0.298	likely_benign	0.2336	benign	0.186	Stabilizing	0.001	N	0.173	neutral	None	None	None	None	I
C/R	0.1631	likely_benign	0.1388	benign	0.309	Stabilizing	0.025	N	0.427	neutral	N	0.407575262	None	None	I
C/S	0.1779	likely_benign	0.1456	benign	-0.253	Destabilizing	None	N	0.156	neutral	N	0.356561958	None	None	I
C/T	0.3478	ambiguous	0.2714	benign	-0.103	Destabilizing	0.015	N	0.308	neutral	None	None	None	None	I
C/V	0.3629	ambiguous	0.2827	benign	-0.445	Destabilizing	0.029	N	0.309	neutral	None	None	None	None	I
C/W	0.2832	likely_benign	0.2359	benign	-0.574	Destabilizing	0.47	N	0.39	neutral	N	0.484653926	None	None	I
C/Y	0.1135	likely_benign	0.1029	benign	-0.443	Destabilizing	None	N	0.155	neutral	N	0.436969089	None	None	I

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.