TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23703	71332;71333;71334	chr2:178575025;178575024;178575023	chr2:179439752;179439751;179439750
N2AB	22062	66409;66410;66411	chr2:178575025;178575024;178575023	chr2:179439752;179439751;179439750
N2A	21135	63628;63629;63630	chr2:178575025;178575024;178575023	chr2:179439752;179439751;179439750
N2B	14638	44137;44138;44139	chr2:178575025;178575024;178575023	chr2:179439752;179439751;179439750
Novex-1	14763	44512;44513;44514	chr2:178575025;178575024;178575023	chr2:179439752;179439751;179439750
Novex-2	14830	44713;44714;44715	chr2:178575025;178575024;178575023	chr2:179439752;179439751;179439750
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCC
• RefSeq wild type template codon: GGG
• Domain: Ig-130
• Domain position: 67
• Structural Position: 153
• Q(SASA): 0.4766
• 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/H	None	None	0.873	N	0.499	0.228	0.413891365518	gnomAD-4.0.0	6.00165E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	6.56256E-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
P/A	0.0661	likely_benign	0.0618	benign	-1.276	Destabilizing	0.148	N	0.293	neutral	N	0.383005234	None	None	N
P/C	0.2929	likely_benign	0.2883	benign	-0.79	Destabilizing	0.991	D	0.486	neutral	None	None	None	None	N
P/D	0.2371	likely_benign	0.2366	benign	-0.772	Destabilizing	0.209	N	0.365	neutral	None	None	None	None	N
P/E	0.1524	likely_benign	0.16	benign	-0.757	Destabilizing	0.002	N	0.193	neutral	None	None	None	None	N
P/F	0.2727	likely_benign	0.2769	benign	-0.92	Destabilizing	0.901	D	0.513	neutral	None	None	None	None	N
P/G	0.2191	likely_benign	0.2197	benign	-1.606	Destabilizing	0.345	N	0.379	neutral	None	None	None	None	N
P/H	0.1115	likely_benign	0.1137	benign	-1.106	Destabilizing	0.873	D	0.499	neutral	N	0.428124235	None	None	N
P/I	0.1295	likely_benign	0.1342	benign	-0.475	Destabilizing	0.017	N	0.369	neutral	None	None	None	None	N
P/K	0.1313	likely_benign	0.1419	benign	-0.955	Destabilizing	0.002	N	0.189	neutral	None	None	None	None	N
P/L	0.0836	likely_benign	0.0836	benign	-0.475	Destabilizing	0.166	N	0.312	neutral	N	0.391952791	None	None	N
P/M	0.1694	likely_benign	0.1685	benign	-0.369	Destabilizing	0.901	D	0.5	neutral	None	None	None	None	N
P/N	0.1571	likely_benign	0.1658	benign	-0.768	Destabilizing	0.561	D	0.445	neutral	None	None	None	None	N
P/Q	0.083	likely_benign	0.0908	benign	-0.884	Destabilizing	0.002	N	0.177	neutral	None	None	None	None	N
P/R	0.1005	likely_benign	0.1055	benign	-0.516	Destabilizing	0.001	N	0.291	neutral	N	0.392067435	None	None	N
P/S	0.0893	likely_benign	0.0868	benign	-1.348	Destabilizing	0.285	N	0.327	neutral	N	0.39818533	None	None	N
P/T	0.0704	likely_benign	0.0688	benign	-1.214	Destabilizing	0.285	N	0.375	neutral	N	0.376271263	None	None	N
P/V	0.1051	likely_benign	0.1054	benign	-0.706	Destabilizing	0.209	N	0.316	neutral	None	None	None	None	N
P/W	0.449	ambiguous	0.4425	ambiguous	-1.125	Destabilizing	0.991	D	0.507	neutral	None	None	None	None	N
P/Y	0.26	likely_benign	0.2539	benign	-0.804	Destabilizing	0.965	D	0.55	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.