TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8774	26545;26546;26547	chr2:178714454;178714453;178714452	chr2:179579181;179579180;179579179
N2AB	8457	25594;25595;25596	chr2:178714454;178714453;178714452	chr2:179579181;179579180;179579179
N2A	7530	22813;22814;22815	chr2:178714454;178714453;178714452	chr2:179579181;179579180;179579179
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: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-73
• Domain position: 39
• Structural Position: 55
• Q(SASA): 0.2739
• 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
G/E	None	None	0.007	N	0.293	0.384	0.32053947749	gnomAD-4.0.0	6.84279E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	1.65684E-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
G/A	0.1359	likely_benign	0.1721	benign	-0.265	Destabilizing	0.278	N	0.347	neutral	D	0.527157866	None	None	N
G/C	0.3146	likely_benign	0.3977	ambiguous	-0.818	Destabilizing	0.995	D	0.535	neutral	None	None	None	None	N
G/D	0.1476	likely_benign	0.2022	benign	-0.319	Destabilizing	0.003	N	0.233	neutral	None	None	None	None	N
G/E	0.1261	likely_benign	0.1715	benign	-0.443	Destabilizing	0.007	N	0.293	neutral	N	0.47393667	None	None	N
G/F	0.5497	ambiguous	0.6613	pathogenic	-0.815	Destabilizing	0.994	D	0.484	neutral	None	None	None	None	N
G/H	0.3775	ambiguous	0.4956	ambiguous	-0.497	Destabilizing	0.98	D	0.419	neutral	None	None	None	None	N
G/I	0.2973	likely_benign	0.3926	ambiguous	-0.27	Destabilizing	0.98	D	0.489	neutral	None	None	None	None	N
G/K	0.2915	likely_benign	0.4192	ambiguous	-0.786	Destabilizing	0.78	D	0.389	neutral	None	None	None	None	N
G/L	0.3647	ambiguous	0.4808	ambiguous	-0.27	Destabilizing	0.961	D	0.477	neutral	None	None	None	None	N
G/M	0.3935	ambiguous	0.4878	ambiguous	-0.493	Destabilizing	0.998	D	0.485	neutral	None	None	None	None	N
G/N	0.2133	likely_benign	0.2735	benign	-0.464	Destabilizing	0.876	D	0.383	neutral	None	None	None	None	N
G/P	0.8039	likely_pathogenic	0.8734	pathogenic	-0.233	Destabilizing	0.949	D	0.426	neutral	None	None	None	None	N
G/Q	0.2361	likely_benign	0.3228	benign	-0.664	Destabilizing	0.389	N	0.299	neutral	None	None	None	None	N
G/R	0.225	likely_benign	0.3292	benign	-0.42	Destabilizing	0.949	D	0.406	neutral	N	0.470323148	None	None	N
G/S	0.1127	likely_benign	0.1384	benign	-0.664	Destabilizing	0.553	D	0.341	neutral	None	None	None	None	N
G/T	0.1706	likely_benign	0.2078	benign	-0.704	Destabilizing	0.876	D	0.426	neutral	None	None	None	None	N
G/V	0.1973	likely_benign	0.2608	benign	-0.233	Destabilizing	0.974	D	0.477	neutral	N	0.519327817	None	None	N
G/W	0.3386	likely_benign	0.4426	ambiguous	-1.029	Destabilizing	0.998	D	0.504	neutral	None	None	None	None	N
G/Y	0.3733	ambiguous	0.4786	ambiguous	-0.653	Destabilizing	0.994	D	0.487	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.