TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8441	25546;25547;25548	chr2:178717553;178717552;178717551	chr2:179582280;179582279;179582278
N2AB	8124	24595;24596;24597	chr2:178717553;178717552;178717551	chr2:179582280;179582279;179582278
N2A	7197	21814;21815;21816	chr2:178717553;178717552;178717551	chr2:179582280;179582279;179582278
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: A
• RefSeq wild type transcript codon: GCT
• RefSeq wild type template codon: CGA
• Domain: Ig-69
• Domain position: 82
• Structural Position: 166
• Q(SASA): 0.1402
• 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
A/V	rs2077677779	None	0.542	N	0.366	0.282	0.428169733428	gnomAD-4.0.0	1.59961E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.44163E-05	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
A/C	0.7519	likely_pathogenic	0.7376	pathogenic	-0.877	Destabilizing	0.378	N	0.371	neutral	None	None	None	None	N
A/D	0.4745	ambiguous	0.3909	ambiguous	0.03	Stabilizing	0.984	D	0.578	neutral	D	0.530827316	None	None	N
A/E	0.545	ambiguous	0.5125	ambiguous	-0.066	Destabilizing	0.983	D	0.527	neutral	None	None	None	None	N
A/F	0.6063	likely_pathogenic	0.5833	pathogenic	-0.927	Destabilizing	1.0	D	0.621	neutral	None	None	None	None	N
A/G	0.3138	likely_benign	0.2763	benign	-0.69	Destabilizing	0.926	D	0.46	neutral	N	0.505713277	None	None	N
A/H	0.7857	likely_pathogenic	0.7593	pathogenic	-0.701	Destabilizing	1.0	D	0.576	neutral	None	None	None	None	N
A/I	0.3894	ambiguous	0.3763	ambiguous	-0.348	Destabilizing	0.994	D	0.572	neutral	None	None	None	None	N
A/K	0.8125	likely_pathogenic	0.7888	pathogenic	-0.551	Destabilizing	0.808	D	0.393	neutral	None	None	None	None	N
A/L	0.438	ambiguous	0.4193	ambiguous	-0.348	Destabilizing	0.985	D	0.513	neutral	None	None	None	None	N
A/M	0.4597	ambiguous	0.4366	ambiguous	-0.427	Destabilizing	1.0	D	0.577	neutral	None	None	None	None	N
A/N	0.5214	ambiguous	0.4809	ambiguous	-0.282	Destabilizing	0.986	D	0.594	neutral	None	None	None	None	N
A/P	0.9718	likely_pathogenic	0.962	pathogenic	-0.377	Destabilizing	0.999	D	0.591	neutral	D	0.528843961	None	None	N
A/Q	0.6462	likely_pathogenic	0.6173	pathogenic	-0.473	Destabilizing	0.966	D	0.393	neutral	None	None	None	None	N
A/R	0.7379	likely_pathogenic	0.7097	pathogenic	-0.26	Destabilizing	0.994	D	0.565	neutral	None	None	None	None	N
A/S	0.1186	likely_benign	0.1142	benign	-0.684	Destabilizing	0.491	N	0.471	neutral	D	0.526864291	None	None	N
A/T	0.1259	likely_benign	0.122	benign	-0.675	Destabilizing	0.357	N	0.366	neutral	D	0.530251312	None	None	N
A/V	0.1729	likely_benign	0.1699	benign	-0.377	Destabilizing	0.542	D	0.366	neutral	N	0.521071682	None	None	N
A/W	0.952	likely_pathogenic	0.9454	pathogenic	-1.085	Destabilizing	1.0	D	0.635	neutral	None	None	None	None	N
A/Y	0.789	likely_pathogenic	0.7594	pathogenic	-0.7	Destabilizing	1.0	D	0.62	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.