TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14572	43939;43940;43941	chr2:178632180;178632179;178632178	chr2:179496907;179496906;179496905
N2AB	12931	39016;39017;39018	chr2:178632180;178632179;178632178	chr2:179496907;179496906;179496905
N2A	12004	36235;36236;36237	chr2:178632180;178632179;178632178	chr2:179496907;179496906;179496905
N2B	5507	16744;16745;16746	chr2:178632180;178632179;178632178	chr2:179496907;179496906;179496905
Novex-1	5632	17119;17120;17121	chr2:178632180;178632179;178632178	chr2:179496907;179496906;179496905
Novex-2	5699	17320;17321;17322	chr2:178632180;178632179;178632178	chr2:179496907;179496906;179496905
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGG
• RefSeq wild type template codon: CCC
• Domain: Ig-96
• Domain position: 76
• Structural Position: 161
• Q(SASA): 0.7014
• 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
G/W	None	None	0.998	D	0.707	0.578	0.821373730238	gnomAD-4.0.0	1.60464E-06	None	None	None	None	I	None	0	0	None	0	0	None	1.89236E-05	0	0	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
G/A	0.3053	likely_benign	0.2345	benign	-0.285	Destabilizing	0.716	D	0.582	neutral	D	0.687934514	None	None	I
G/C	0.504	ambiguous	0.4586	ambiguous	-0.967	Destabilizing	0.998	D	0.709	prob.delet.	None	None	None	None	I
G/D	0.1749	likely_benign	0.1265	benign	-0.699	Destabilizing	0.046	N	0.361	neutral	None	None	None	None	I
G/E	0.2596	likely_benign	0.1831	benign	-0.861	Destabilizing	0.035	N	0.417	neutral	D	0.575803045	None	None	I
G/F	0.8141	likely_pathogenic	0.7232	pathogenic	-1.045	Destabilizing	0.998	D	0.737	prob.delet.	None	None	None	None	I
G/H	0.5816	likely_pathogenic	0.4743	ambiguous	-0.357	Destabilizing	0.994	D	0.731	prob.delet.	None	None	None	None	I
G/I	0.6782	likely_pathogenic	0.5502	ambiguous	-0.519	Destabilizing	0.994	D	0.731	prob.delet.	None	None	None	None	I
G/K	0.6319	likely_pathogenic	0.4958	ambiguous	-0.76	Destabilizing	0.921	D	0.699	prob.neutral	None	None	None	None	I
G/L	0.7393	likely_pathogenic	0.6287	pathogenic	-0.519	Destabilizing	0.959	D	0.699	prob.neutral	None	None	None	None	I
G/M	0.7643	likely_pathogenic	0.6541	pathogenic	-0.647	Destabilizing	0.998	D	0.725	prob.delet.	None	None	None	None	I
G/N	0.2875	likely_benign	0.2058	benign	-0.449	Destabilizing	0.959	D	0.681	prob.neutral	None	None	None	None	I
G/P	0.964	likely_pathogenic	0.9367	pathogenic	-0.414	Destabilizing	0.979	D	0.705	prob.neutral	None	None	None	None	I
G/Q	0.502	ambiguous	0.3841	ambiguous	-0.735	Destabilizing	0.921	D	0.699	prob.neutral	None	None	None	None	I
G/R	0.5026	ambiguous	0.3951	ambiguous	-0.288	Destabilizing	0.946	D	0.71	prob.delet.	D	0.625472351	None	None	I
G/S	0.1725	likely_benign	0.1368	benign	-0.576	Destabilizing	0.769	D	0.65	neutral	None	None	None	None	I
G/T	0.4082	ambiguous	0.2944	benign	-0.674	Destabilizing	0.959	D	0.692	prob.neutral	None	None	None	None	I
G/V	0.5223	ambiguous	0.4084	ambiguous	-0.414	Destabilizing	0.946	D	0.688	prob.neutral	D	0.686817093	None	None	I
G/W	0.6726	likely_pathogenic	0.5949	pathogenic	-1.149	Destabilizing	0.998	D	0.707	prob.neutral	D	0.686817093	None	None	I
G/Y	0.6593	likely_pathogenic	0.549	ambiguous	-0.835	Destabilizing	0.998	D	0.737	prob.delet.	None	None	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.