TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5076	15451;15452;15453	chr2:178734598;178734597;178734596	chr2:179599325;179599324;179599323
N2AB	4759	14500;14501;14502	chr2:178734598;178734597;178734596	chr2:179599325;179599324;179599323
N2A	3832	11719;11720;11721	chr2:178734598;178734597;178734596	chr2:179599325;179599324;179599323
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Ig-34
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.3239
• 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
S/F	None	None	0.984	N	0.627	0.275	0.679362012665	gnomAD-4.0.0	1.71952E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.05308E-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
S/A	0.0739	likely_benign	0.0711	benign	-0.436	Destabilizing	0.103	N	0.14	neutral	N	0.499811849	None	None	N
S/C	0.1041	likely_benign	0.1	benign	-0.343	Destabilizing	0.059	N	0.329	neutral	D	0.60506773	None	None	N
S/D	0.4977	ambiguous	0.4121	ambiguous	0.661	Stabilizing	0.919	D	0.458	neutral	None	None	None	None	N
S/E	0.5201	ambiguous	0.4446	ambiguous	0.624	Stabilizing	0.919	D	0.453	neutral	None	None	None	None	N
S/F	0.1451	likely_benign	0.12	benign	-0.879	Destabilizing	0.984	D	0.627	neutral	N	0.503842155	None	None	N
S/G	0.132	likely_benign	0.1171	benign	-0.613	Destabilizing	0.851	D	0.447	neutral	None	None	None	None	N
S/H	0.3088	likely_benign	0.2534	benign	-1.026	Destabilizing	0.999	D	0.518	neutral	None	None	None	None	N
S/I	0.1292	likely_benign	0.1161	benign	-0.091	Destabilizing	0.976	D	0.566	neutral	None	None	None	None	N
S/K	0.6147	likely_pathogenic	0.4918	ambiguous	-0.238	Destabilizing	0.919	D	0.452	neutral	None	None	None	None	N
S/L	0.091	likely_benign	0.0817	benign	-0.091	Destabilizing	0.851	D	0.523	neutral	None	None	None	None	N
S/M	0.1885	likely_benign	0.1656	benign	-0.068	Destabilizing	0.999	D	0.519	neutral	None	None	None	None	N
S/N	0.1818	likely_benign	0.147	benign	-0.152	Destabilizing	0.919	D	0.486	neutral	None	None	None	None	N
S/P	0.9356	likely_pathogenic	0.8913	pathogenic	-0.174	Destabilizing	0.984	D	0.527	neutral	N	0.503619049	None	None	N
S/Q	0.4452	ambiguous	0.3696	ambiguous	-0.249	Destabilizing	0.988	D	0.492	neutral	None	None	None	None	N
S/R	0.4804	ambiguous	0.366	ambiguous	-0.198	Destabilizing	0.976	D	0.532	neutral	None	None	None	None	N
S/T	0.0668	likely_benign	0.0671	benign	-0.247	Destabilizing	0.103	N	0.205	neutral	N	0.477903847	None	None	N
S/V	0.1133	likely_benign	0.1044	benign	-0.174	Destabilizing	0.851	D	0.539	neutral	None	None	None	None	N
S/W	0.372	ambiguous	0.3129	benign	-0.888	Destabilizing	0.999	D	0.736	prob.delet.	None	None	None	None	N
S/Y	0.1628	likely_benign	0.1351	benign	-0.574	Destabilizing	0.995	D	0.638	neutral	N	0.497536234	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.