TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31283	94072;94073;94074	chr2:178547779;178547778;178547777	chr2:179412506;179412505;179412504
N2AB	29642	89149;89150;89151	chr2:178547779;178547778;178547777	chr2:179412506;179412505;179412504
N2A	28715	86368;86369;86370	chr2:178547779;178547778;178547777	chr2:179412506;179412505;179412504
N2B	22218	66877;66878;66879	chr2:178547779;178547778;178547777	chr2:179412506;179412505;179412504
Novex-1	22343	67252;67253;67254	chr2:178547779;178547778;178547777	chr2:179412506;179412505;179412504
Novex-2	22410	67453;67454;67455	chr2:178547779;178547778;178547777	chr2:179412506;179412505;179412504
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-151
• Domain position: 66
• Structural Position: 151
• Q(SASA): 0.2838
• 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/Y	None	None	0.999	N	0.812	0.548	0.785898684871	gnomAD-4.0.0	1.59103E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85773E-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	0.1241	likely_benign	0.1353	benign	-0.747	Destabilizing	0.973	D	0.391	neutral	N	0.497176102	None	None	N
S/C	0.1836	likely_benign	0.2216	benign	-0.501	Destabilizing	1.0	D	0.745	deleterious	D	0.534871122	None	None	N
S/D	0.7769	likely_pathogenic	0.8051	pathogenic	0.193	Stabilizing	0.996	D	0.501	neutral	None	None	None	None	N
S/E	0.8114	likely_pathogenic	0.8415	pathogenic	0.183	Stabilizing	0.996	D	0.498	neutral	None	None	None	None	N
S/F	0.6511	likely_pathogenic	0.7294	pathogenic	-0.991	Destabilizing	0.999	D	0.819	deleterious	D	0.523261327	None	None	N
S/G	0.0998	likely_benign	0.1142	benign	-0.975	Destabilizing	0.996	D	0.461	neutral	None	None	None	None	N
S/H	0.686	likely_pathogenic	0.7295	pathogenic	-1.377	Destabilizing	1.0	D	0.743	deleterious	None	None	None	None	N
S/I	0.5732	likely_pathogenic	0.6529	pathogenic	-0.249	Destabilizing	0.998	D	0.786	deleterious	None	None	None	None	N
S/K	0.9098	likely_pathogenic	0.9247	pathogenic	-0.488	Destabilizing	0.996	D	0.496	neutral	None	None	None	None	N
S/L	0.3356	likely_benign	0.3975	ambiguous	-0.249	Destabilizing	0.992	D	0.622	neutral	None	None	None	None	N
S/M	0.4407	ambiguous	0.4875	ambiguous	-0.027	Destabilizing	1.0	D	0.744	deleterious	None	None	None	None	N
S/N	0.3711	ambiguous	0.4152	ambiguous	-0.426	Destabilizing	0.996	D	0.495	neutral	None	None	None	None	N
S/P	0.9306	likely_pathogenic	0.9655	pathogenic	-0.382	Destabilizing	0.999	D	0.751	deleterious	D	0.534364143	None	None	N
S/Q	0.7595	likely_pathogenic	0.7947	pathogenic	-0.58	Destabilizing	1.0	D	0.657	neutral	None	None	None	None	N
S/R	0.8308	likely_pathogenic	0.8649	pathogenic	-0.399	Destabilizing	0.999	D	0.765	deleterious	None	None	None	None	N
S/T	0.1355	likely_benign	0.1451	benign	-0.528	Destabilizing	0.543	D	0.365	neutral	N	0.518764882	None	None	N
S/V	0.5364	ambiguous	0.6099	pathogenic	-0.382	Destabilizing	0.998	D	0.705	prob.neutral	None	None	None	None	N
S/W	0.7727	likely_pathogenic	0.8493	pathogenic	-0.921	Destabilizing	1.0	D	0.77	deleterious	None	None	None	None	N
S/Y	0.5839	likely_pathogenic	0.6641	pathogenic	-0.657	Destabilizing	0.999	D	0.812	deleterious	N	0.516513378	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.