TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28002	84229;84230;84231	chr2:178562128;178562127;178562126	chr2:179426855;179426854;179426853
N2AB	26361	79306;79307;79308	chr2:178562128;178562127;178562126	chr2:179426855;179426854;179426853
N2A	25434	76525;76526;76527	chr2:178562128;178562127;178562126	chr2:179426855;179426854;179426853
N2B	18937	57034;57035;57036	chr2:178562128;178562127;178562126	chr2:179426855;179426854;179426853
Novex-1	19062	57409;57410;57411	chr2:178562128;178562127;178562126	chr2:179426855;179426854;179426853
Novex-2	19129	57610;57611;57612	chr2:178562128;178562127;178562126	chr2:179426855;179426854;179426853
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-142
• Domain position: 40
• Structural Position: 56
• Q(SASA): 0.4925
• 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
T/P	rs369737884	None	None	N	0.241	0.15	None	gnomAD-4.0.0	1.59276E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86E-06	0	0
T/S	None	None	None	N	0.141	0.107	0.0884992946249	gnomAD-4.0.0	1.59276E-06	None	None	None	None	N	None	0	2.29074E-05	None	0	0	None	0	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
T/A	0.0599	likely_benign	0.0583	benign	-0.458	Destabilizing	None	N	0.123	neutral	N	0.414885579	None	None	N
T/C	0.2368	likely_benign	0.2194	benign	-0.276	Destabilizing	0.245	N	0.321	neutral	None	None	None	None	N
T/D	0.2108	likely_benign	0.178	benign	0.049	Stabilizing	None	N	0.235	neutral	None	None	None	None	N
T/E	0.164	likely_benign	0.147	benign	-0.017	Destabilizing	0.009	N	0.364	neutral	None	None	None	None	N
T/F	0.125	likely_benign	0.1065	benign	-0.806	Destabilizing	0.044	N	0.463	neutral	None	None	None	None	N
T/G	0.1747	likely_benign	0.1503	benign	-0.622	Destabilizing	0.009	N	0.3	neutral	None	None	None	None	N
T/H	0.1513	likely_benign	0.1404	benign	-0.907	Destabilizing	0.245	N	0.389	neutral	None	None	None	None	N
T/I	0.0629	likely_benign	0.0554	benign	-0.139	Destabilizing	None	N	0.165	neutral	N	0.498426896	None	None	N
T/K	0.131	likely_benign	0.1207	benign	-0.516	Destabilizing	0.009	N	0.362	neutral	None	None	None	None	N
T/L	0.0526	likely_benign	0.0488	benign	-0.139	Destabilizing	None	N	0.154	neutral	None	None	None	None	N
T/M	0.0624	likely_benign	0.061	benign	0.086	Stabilizing	0.138	N	0.364	neutral	None	None	None	None	N
T/N	0.0778	likely_benign	0.0686	benign	-0.25	Destabilizing	0.017	N	0.231	neutral	N	0.483822802	None	None	N
T/P	0.0515	likely_benign	0.0475	benign	-0.215	Destabilizing	None	N	0.241	neutral	N	0.394086232	None	None	N
T/Q	0.1379	likely_benign	0.1283	benign	-0.501	Destabilizing	0.044	N	0.399	neutral	None	None	None	None	N
T/R	0.1244	likely_benign	0.119	benign	-0.206	Destabilizing	0.044	N	0.393	neutral	None	None	None	None	N
T/S	0.0864	likely_benign	0.0816	benign	-0.486	Destabilizing	None	N	0.141	neutral	N	0.440840029	None	None	N
T/V	0.0621	likely_benign	0.0579	benign	-0.215	Destabilizing	None	N	0.117	neutral	None	None	None	None	N
T/W	0.388	ambiguous	0.3475	ambiguous	-0.774	Destabilizing	0.788	D	0.389	neutral	None	None	None	None	N
T/Y	0.1553	likely_benign	0.1386	benign	-0.525	Destabilizing	0.245	N	0.46	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.