TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32043	96352;96353;96354	chr2:178544017;178544016;178544015	chr2:179408744;179408743;179408742
N2AB	30402	91429;91430;91431	chr2:178544017;178544016;178544015	chr2:179408744;179408743;179408742
N2A	29475	88648;88649;88650	chr2:178544017;178544016;178544015	chr2:179408744;179408743;179408742
N2B	22978	69157;69158;69159	chr2:178544017;178544016;178544015	chr2:179408744;179408743;179408742
Novex-1	23103	69532;69533;69534	chr2:178544017;178544016;178544015	chr2:179408744;179408743;179408742
Novex-2	23170	69733;69734;69735	chr2:178544017;178544016;178544015	chr2:179408744;179408743;179408742
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Ig-153
• Domain position: 27
• Structural Position: 43
• Q(SASA): 0.4055
• 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	0.148	0.074	0.162503812791	gnomAD-4.0.0	6.84263E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99518E-07	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	0.0503	likely_benign	0.0511	benign	-0.576	Destabilizing	None	N	0.142	neutral	N	0.440109311	None	None	N
P/C	0.2686	likely_benign	0.2697	benign	-0.509	Destabilizing	0.824	D	0.571	neutral	None	None	None	None	N
P/D	0.3855	ambiguous	0.3541	ambiguous	-0.529	Destabilizing	0.081	N	0.409	neutral	None	None	None	None	N
P/E	0.2326	likely_benign	0.2125	benign	-0.641	Destabilizing	0.081	N	0.449	neutral	None	None	None	None	N
P/F	0.2606	likely_benign	0.252	benign	-0.775	Destabilizing	0.555	D	0.592	neutral	None	None	None	None	N
P/G	0.2434	likely_benign	0.2266	benign	-0.725	Destabilizing	0.035	N	0.507	neutral	None	None	None	None	N
P/H	0.1362	likely_benign	0.129	benign	-0.366	Destabilizing	0.78	D	0.559	neutral	N	0.492556091	None	None	N
P/I	0.1298	likely_benign	0.1333	benign	-0.328	Destabilizing	0.38	N	0.564	neutral	None	None	None	None	N
P/K	0.1927	likely_benign	0.18	benign	-0.587	Destabilizing	0.081	N	0.443	neutral	None	None	None	None	N
P/L	0.0708	likely_benign	0.071	benign	-0.328	Destabilizing	0.062	N	0.541	neutral	N	0.480937213	None	None	N
P/M	0.14	likely_benign	0.1425	benign	-0.336	Destabilizing	0.555	D	0.561	neutral	None	None	None	None	N
P/N	0.1958	likely_benign	0.1873	benign	-0.222	Destabilizing	0.081	N	0.527	neutral	None	None	None	None	N
P/Q	0.1056	likely_benign	0.1018	benign	-0.485	Destabilizing	0.38	N	0.466	neutral	None	None	None	None	N
P/R	0.1501	likely_benign	0.1426	benign	-0.048	Destabilizing	0.317	N	0.557	neutral	N	0.473664524	None	None	N
P/S	0.0783	likely_benign	0.0739	benign	-0.545	Destabilizing	None	N	0.148	neutral	N	0.504928793	None	None	N
P/T	0.0644	likely_benign	0.0637	benign	-0.563	Destabilizing	None	N	0.143	neutral	N	0.41507758	None	None	N
P/V	0.0959	likely_benign	0.0998	benign	-0.376	Destabilizing	0.081	N	0.518	neutral	None	None	None	None	N
P/W	0.4978	ambiguous	0.4673	ambiguous	-0.871	Destabilizing	0.935	D	0.619	neutral	None	None	None	None	N
P/Y	0.2693	likely_benign	0.2577	benign	-0.582	Destabilizing	0.555	D	0.594	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.