TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	21107	63544;63545;63546	chr2:178588088;178588087;178588086	chr2:179452815;179452814;179452813
N2AB	19466	58621;58622;58623	chr2:178588088;178588087;178588086	chr2:179452815;179452814;179452813
N2A	18539	55840;55841;55842	chr2:178588088;178588087;178588086	chr2:179452815;179452814;179452813
N2B	12042	36349;36350;36351	chr2:178588088;178588087;178588086	chr2:179452815;179452814;179452813
Novex-1	12167	36724;36725;36726	chr2:178588088;178588087;178588086	chr2:179452815;179452814;179452813
Novex-2	12234	36925;36926;36927	chr2:178588088;178588087;178588086	chr2:179452815;179452814;179452813
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: I
• RefSeq wild type transcript codon: ATA
• RefSeq wild type template codon: TAT
• Domain: Fn3-41
• Domain position: 44
• Structural Position: 54
• Q(SASA): 0.1755
• 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
I/T	None	None	None	N	0.192	0.071	0.101711395817	gnomAD-4.0.0	6.8456E-07	None	None	None	None	N	None	0	0	None	0	0	None	1.87322E-05	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
I/A	0.0899	likely_benign	0.0831	benign	-0.772	Destabilizing	0.002	N	0.3	neutral	None	None	None	None	N
I/C	0.3636	ambiguous	0.3495	ambiguous	-0.565	Destabilizing	0.497	N	0.308	neutral	None	None	None	None	N
I/D	0.1735	likely_benign	0.1646	benign	-0.555	Destabilizing	None	N	0.223	neutral	None	None	None	None	N
I/E	0.13	likely_benign	0.1212	benign	-0.651	Destabilizing	0.004	N	0.426	neutral	None	None	None	None	N
I/F	0.12	likely_benign	0.1235	benign	-0.793	Destabilizing	0.022	N	0.296	neutral	None	None	None	None	N
I/G	0.1508	likely_benign	0.1516	benign	-0.942	Destabilizing	0.018	N	0.431	neutral	None	None	None	None	N
I/H	0.17	likely_benign	0.1498	benign	-0.278	Destabilizing	0.245	N	0.435	neutral	None	None	None	None	N
I/K	0.0787	likely_benign	0.071	benign	-0.537	Destabilizing	None	N	0.193	neutral	N	0.39096213	None	None	N
I/L	0.0789	likely_benign	0.0764	benign	-0.443	Destabilizing	None	N	0.097	neutral	N	0.407259734	None	None	N
I/M	0.0696	likely_benign	0.0686	benign	-0.428	Destabilizing	0.001	N	0.217	neutral	N	0.445047331	None	None	N
I/N	0.0654	likely_benign	0.0626	benign	-0.276	Destabilizing	0.018	N	0.439	neutral	None	None	None	None	N
I/P	0.2491	likely_benign	0.2629	benign	-0.52	Destabilizing	0.085	N	0.503	neutral	None	None	None	None	N
I/Q	0.1168	likely_benign	0.1014	benign	-0.532	Destabilizing	0.001	N	0.26	neutral	None	None	None	None	N
I/R	0.0759	likely_benign	0.068	benign	0.069	Stabilizing	None	N	0.244	neutral	N	0.419226166	None	None	N
I/S	0.0784	likely_benign	0.0752	benign	-0.664	Destabilizing	None	N	0.178	neutral	None	None	None	None	N
I/T	0.0775	likely_benign	0.0718	benign	-0.657	Destabilizing	None	N	0.192	neutral	N	0.397773459	None	None	N
I/V	0.0708	likely_benign	0.066	benign	-0.52	Destabilizing	None	N	0.13	neutral	N	0.401507197	None	None	N
I/W	0.4753	ambiguous	0.4591	ambiguous	-0.817	Destabilizing	0.788	D	0.412	neutral	None	None	None	None	N
I/Y	0.2298	likely_benign	0.2249	benign	-0.581	Destabilizing	0.085	N	0.399	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.