TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8328	25207;25208;25209	chr2:178718024;178718023;178718022	chr2:179582751;179582750;179582749
N2AB	8011	24256;24257;24258	chr2:178718024;178718023;178718022	chr2:179582751;179582750;179582749
N2A	7084	21475;21476;21477	chr2:178718024;178718023;178718022	chr2:179582751;179582750;179582749
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: H
• RefSeq wild type transcript codon: CAC
• RefSeq wild type template codon: GTG
• Domain: Ig-68
• Domain position: 65
• Structural Position: 146
• Q(SASA): 0.8645
• 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
H/N	rs767212475	0.233	None	N	0.143	0.188	0.190952846119	gnomAD-2.1.1	4.02E-06	None	None	None	None	I	None	0	0	None	0	0	None	3.27E-05	None	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
H/A	0.1275	likely_benign	0.1387	benign	0.445	Stabilizing	0.001	N	0.143	neutral	None	None	None	None	I
H/C	0.1869	likely_benign	0.2249	benign	0.67	Stabilizing	0.76	D	0.244	neutral	None	None	None	None	I
H/D	0.0994	likely_benign	0.0997	benign	-0.192	Destabilizing	None	N	0.149	neutral	N	0.444653913	None	None	I
H/E	0.1529	likely_benign	0.1593	benign	-0.161	Destabilizing	0.008	N	0.164	neutral	None	None	None	None	I
H/F	0.2286	likely_benign	0.2494	benign	1.137	Stabilizing	0.355	N	0.319	neutral	None	None	None	None	I
H/G	0.1725	likely_benign	0.191	benign	0.175	Stabilizing	0.042	N	0.259	neutral	None	None	None	None	I
H/I	0.1673	likely_benign	0.1685	benign	1.133	Stabilizing	0.001	N	0.197	neutral	None	None	None	None	I
H/K	0.168	likely_benign	0.1806	benign	0.402	Stabilizing	None	N	0.138	neutral	None	None	None	None	I
H/L	0.0834	likely_benign	0.0922	benign	1.133	Stabilizing	0.013	N	0.289	neutral	N	0.370308083	None	None	I
H/M	0.2912	likely_benign	0.3007	benign	0.743	Stabilizing	0.58	D	0.302	neutral	None	None	None	None	I
H/N	0.0622	likely_benign	0.0584	benign	0.236	Stabilizing	None	N	0.143	neutral	N	0.453716113	None	None	I
H/P	0.0839	likely_benign	0.0999	benign	0.928	Stabilizing	None	N	0.149	neutral	N	0.387296333	None	None	I
H/Q	0.1089	likely_benign	0.1216	benign	0.353	Stabilizing	0.002	N	0.131	neutral	N	0.421950411	None	None	I
H/R	0.0856	likely_benign	0.0965	benign	-0.2	Destabilizing	0.029	N	0.17	neutral	N	0.384546816	None	None	I
H/S	0.1071	likely_benign	0.1082	benign	0.382	Stabilizing	0.019	N	0.235	neutral	None	None	None	None	I
H/T	0.1385	likely_benign	0.1365	benign	0.519	Stabilizing	None	N	0.141	neutral	None	None	None	None	I
H/V	0.1395	likely_benign	0.1439	benign	0.928	Stabilizing	0.018	N	0.286	neutral	None	None	None	None	I
H/W	0.3852	ambiguous	0.4089	ambiguous	1.084	Stabilizing	0.983	D	0.221	neutral	None	None	None	None	I
H/Y	0.0863	likely_benign	0.0931	benign	1.333	Stabilizing	0.293	N	0.269	neutral	N	0.451118525	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.