TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6709	20350;20351;20352	chr2:178727240;178727239;178727238	chr2:179591967;179591966;179591965
N2AB	6392	19399;19400;19401	chr2:178727240;178727239;178727238	chr2:179591967;179591966;179591965
N2A	5465	16618;16619;16620	chr2:178727240;178727239;178727238	chr2:179591967;179591966;179591965
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: P
• RefSeq wild type transcript codon: CCA
• RefSeq wild type template codon: GGT
• Domain: Ig-51
• Domain position: 43
• Structural Position: 59
• Q(SASA): 0.55
• 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
P/S	None	None	None	N	0.147	0.126	0.0920862733494	gnomAD-4.0.0	3.18517E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86082E-06	0	3.02682E-05

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
P/A	0.0583	likely_benign	0.0562	benign	-0.472	Destabilizing	0.001	N	0.26	neutral	N	0.486745677	None	None	N
P/C	0.2416	likely_benign	0.2872	benign	-0.657	Destabilizing	0.245	N	0.417	neutral	None	None	None	None	N
P/D	0.1939	likely_benign	0.213	benign	-0.284	Destabilizing	0.018	N	0.339	neutral	None	None	None	None	N
P/E	0.1194	likely_benign	0.1264	benign	-0.37	Destabilizing	0.004	N	0.308	neutral	None	None	None	None	N
P/F	0.1607	likely_benign	0.1657	benign	-0.629	Destabilizing	0.044	N	0.469	neutral	None	None	None	None	N
P/G	0.1436	likely_benign	0.1519	benign	-0.619	Destabilizing	0.004	N	0.312	neutral	None	None	None	None	N
P/H	0.0735	likely_benign	0.0829	benign	-0.16	Destabilizing	None	N	0.249	neutral	None	None	None	None	N
P/I	0.1144	likely_benign	0.1083	benign	-0.22	Destabilizing	0.009	N	0.391	neutral	None	None	None	None	N
P/K	0.0993	likely_benign	0.1063	benign	-0.45	Destabilizing	None	N	0.178	neutral	None	None	None	None	N
P/L	0.062	likely_benign	0.0592	benign	-0.22	Destabilizing	0.003	N	0.301	neutral	N	0.459311147	None	None	N
P/M	0.1348	likely_benign	0.1265	benign	-0.445	Destabilizing	0.002	N	0.254	neutral	None	None	None	None	N
P/N	0.1282	likely_benign	0.1363	benign	-0.237	Destabilizing	0.009	N	0.369	neutral	None	None	None	None	N
P/Q	0.0707	likely_benign	0.0738	benign	-0.418	Destabilizing	None	N	0.156	neutral	N	0.429814959	None	None	N
P/R	0.075	likely_benign	0.0814	benign	0.002	Stabilizing	0.007	N	0.364	neutral	N	0.447245927	None	None	N
P/S	0.0717	likely_benign	0.0717	benign	-0.595	Destabilizing	None	N	0.147	neutral	N	0.450574234	None	None	N
P/T	0.0619	likely_benign	0.0602	benign	-0.573	Destabilizing	None	N	0.149	neutral	N	0.465100969	None	None	N
P/V	0.0973	likely_benign	0.0928	benign	-0.271	Destabilizing	None	N	0.181	neutral	None	None	None	None	N
P/W	0.241	likely_benign	0.2728	benign	-0.733	Destabilizing	0.788	D	0.406	neutral	None	None	None	None	N
P/Y	0.1541	likely_benign	0.1728	benign	-0.431	Destabilizing	0.044	N	0.504	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.