TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8153	24682;24683;24684	chr2:178718743;178718742;178718741	chr2:179583470;179583469;179583468
N2AB	7836	23731;23732;23733	chr2:178718743;178718742;178718741	chr2:179583470;179583469;179583468
N2A	6909	20950;20951;20952	chr2:178718743;178718742;178718741	chr2:179583470;179583469;179583468
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: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-66
• Domain position: 76
• Structural Position: 159
• Q(SASA): 0.194
• 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/A	None	None	None	D	0.156	0.291	0.187945064343	gnomAD-4.0.0	1.59128E-06	None	None	None	None	N	None	0	0	None	0	0	None	1.88232E-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
T/A	0.0923	likely_benign	0.0971	benign	-1.094	Destabilizing	None	N	0.156	neutral	D	0.533752977	None	None	N
T/C	0.4493	ambiguous	0.4804	ambiguous	-0.899	Destabilizing	0.667	D	0.535	neutral	None	None	None	None	N
T/D	0.3983	ambiguous	0.3998	ambiguous	-0.701	Destabilizing	0.22	N	0.528	neutral	None	None	None	None	N
T/E	0.2628	likely_benign	0.2615	benign	-0.637	Destabilizing	0.22	N	0.501	neutral	None	None	None	None	N
T/F	0.2324	likely_benign	0.2403	benign	-0.984	Destabilizing	0.497	N	0.579	neutral	None	None	None	None	N
T/G	0.2768	likely_benign	0.2845	benign	-1.406	Destabilizing	0.055	N	0.553	neutral	None	None	None	None	N
T/H	0.2583	likely_benign	0.2637	benign	-1.557	Destabilizing	0.958	D	0.553	neutral	None	None	None	None	N
T/I	0.187	likely_benign	0.1949	benign	-0.33	Destabilizing	None	N	0.224	neutral	N	0.476419614	None	None	N
T/K	0.2208	likely_benign	0.2192	benign	-0.808	Destabilizing	0.175	N	0.49	neutral	N	0.519879603	None	None	N
T/L	0.1263	likely_benign	0.1298	benign	-0.33	Destabilizing	0.02	N	0.509	neutral	None	None	None	None	N
T/M	0.0951	likely_benign	0.0975	benign	-0.111	Destabilizing	0.497	N	0.544	neutral	None	None	None	None	N
T/N	0.1372	likely_benign	0.1424	benign	-0.982	Destabilizing	0.22	N	0.489	neutral	None	None	None	None	N
T/P	0.6537	likely_pathogenic	0.66	pathogenic	-0.552	Destabilizing	0.602	D	0.527	neutral	N	0.504182794	None	None	N
T/Q	0.2093	likely_benign	0.2097	benign	-1.097	Destabilizing	0.667	D	0.55	neutral	None	None	None	None	N
T/R	0.1552	likely_benign	0.1585	benign	-0.631	Destabilizing	0.427	N	0.539	neutral	N	0.502854067	None	None	N
T/S	0.0993	likely_benign	0.1003	benign	-1.309	Destabilizing	0.001	N	0.149	neutral	N	0.417139237	None	None	N
T/V	0.1548	likely_benign	0.1637	benign	-0.552	Destabilizing	0.001	N	0.159	neutral	None	None	None	None	N
T/W	0.5569	ambiguous	0.5605	ambiguous	-0.892	Destabilizing	0.958	D	0.575	neutral	None	None	None	None	N
T/Y	0.2903	likely_benign	0.2884	benign	-0.642	Destabilizing	0.667	D	0.591	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.