TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8746	26461;26462;26463	chr2:178714538;178714537;178714536	chr2:179579265;179579264;179579263
N2AB	8429	25510;25511;25512	chr2:178714538;178714537;178714536	chr2:179579265;179579264;179579263
N2A	7502	22729;22730;22731	chr2:178714538;178714537;178714536	chr2:179579265;179579264;179579263
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-73
• Domain position: 11
• Structural Position: 14
• Q(SASA): 0.3312
• 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/P	None	None	0.956	N	0.396	0.414	0.362758974969	gnomAD-4.0.0	1.59661E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43724E-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
S/A	0.075	likely_benign	0.0889	benign	-0.279	Destabilizing	0.044	N	0.355	neutral	D	0.526938861	None	None	N
S/C	0.1243	likely_benign	0.1528	benign	-0.338	Destabilizing	0.996	D	0.461	neutral	D	0.526486877	None	None	N
S/D	0.2622	likely_benign	0.3519	ambiguous	0.437	Stabilizing	0.801	D	0.349	neutral	None	None	None	None	N
S/E	0.3149	likely_benign	0.409	ambiguous	0.351	Stabilizing	0.849	D	0.347	neutral	None	None	None	None	N
S/F	0.1442	likely_benign	0.1981	benign	-0.901	Destabilizing	0.988	D	0.558	neutral	N	0.514459008	None	None	N
S/G	0.0983	likely_benign	0.1205	benign	-0.382	Destabilizing	0.882	D	0.392	neutral	None	None	None	None	N
S/H	0.2225	likely_benign	0.2757	benign	-0.823	Destabilizing	0.999	D	0.463	neutral	None	None	None	None	N
S/I	0.1306	likely_benign	0.1724	benign	-0.14	Destabilizing	0.981	D	0.465	neutral	None	None	None	None	N
S/K	0.3752	ambiguous	0.4965	ambiguous	-0.312	Destabilizing	0.938	D	0.35	neutral	None	None	None	None	N
S/L	0.0867	likely_benign	0.1073	benign	-0.14	Destabilizing	0.883	D	0.465	neutral	None	None	None	None	N
S/M	0.1736	likely_benign	0.1977	benign	-0.076	Destabilizing	0.999	D	0.465	neutral	None	None	None	None	N
S/N	0.1035	likely_benign	0.119	benign	-0.13	Destabilizing	0.321	N	0.397	neutral	None	None	None	None	N
S/P	0.1759	likely_benign	0.2773	benign	-0.158	Destabilizing	0.956	D	0.396	neutral	N	0.503102703	None	None	N
S/Q	0.3116	likely_benign	0.3807	ambiguous	-0.315	Destabilizing	0.991	D	0.387	neutral	None	None	None	None	N
S/R	0.2927	likely_benign	0.408	ambiguous	-0.167	Destabilizing	0.981	D	0.403	neutral	None	None	None	None	N
S/T	0.0635	likely_benign	0.0645	benign	-0.235	Destabilizing	0.001	N	0.119	neutral	N	0.44093603	None	None	N
S/V	0.1384	likely_benign	0.174	benign	-0.158	Destabilizing	0.738	D	0.461	neutral	None	None	None	None	N
S/W	0.2612	likely_benign	0.348	ambiguous	-0.935	Destabilizing	0.999	D	0.661	neutral	None	None	None	None	N
S/Y	0.1357	likely_benign	0.1707	benign	-0.622	Destabilizing	0.996	D	0.563	neutral	N	0.489771388	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.