TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	27134	81625;81626;81627	chr2:178564732;178564731;178564730	chr2:179429459;179429458;179429457
N2AB	25493	76702;76703;76704	chr2:178564732;178564731;178564730	chr2:179429459;179429458;179429457
N2A	24566	73921;73922;73923	chr2:178564732;178564731;178564730	chr2:179429459;179429458;179429457
N2B	18069	54430;54431;54432	chr2:178564732;178564731;178564730	chr2:179429459;179429458;179429457
Novex-1	18194	54805;54806;54807	chr2:178564732;178564731;178564730	chr2:179429459;179429458;179429457
Novex-2	18261	55006;55007;55008	chr2:178564732;178564731;178564730	chr2:179429459;179429458;179429457
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: Fn3-85
• Domain position: 63
• Structural Position: 93
• Q(SASA): 0.0893
• 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/I	None	None	0.124	N	0.755	0.167	0.213573922156	gnomAD-4.0.0	6.84497E-07	None	None	None	None	N	None	2.98918E-05	0	None	0	0	None	0	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	0.069	likely_benign	0.068	benign	-0.803	Destabilizing	0.001	N	0.345	neutral	N	0.427859584	None	None	N
T/C	0.2704	likely_benign	0.28	benign	-0.547	Destabilizing	0.909	D	0.782	deleterious	None	None	None	None	N
T/D	0.7879	likely_pathogenic	0.7817	pathogenic	-1.398	Destabilizing	0.567	D	0.797	deleterious	None	None	None	None	N
T/E	0.6766	likely_pathogenic	0.6584	pathogenic	-1.149	Destabilizing	0.272	N	0.773	deleterious	None	None	None	None	N
T/F	0.3809	ambiguous	0.3652	ambiguous	-0.586	Destabilizing	0.567	D	0.811	deleterious	None	None	None	None	N
T/G	0.3246	likely_benign	0.3298	benign	-1.255	Destabilizing	0.157	N	0.749	deleterious	None	None	None	None	N
T/H	0.498	ambiguous	0.4843	ambiguous	-1.388	Destabilizing	0.968	D	0.823	deleterious	None	None	None	None	N
T/I	0.1479	likely_benign	0.1405	benign	0.396	Stabilizing	0.124	N	0.755	deleterious	N	0.392704074	None	None	N
T/K	0.4847	ambiguous	0.4282	ambiguous	-0.136	Destabilizing	0.497	N	0.776	deleterious	D	0.524271411	None	None	N
T/L	0.1226	likely_benign	0.1168	benign	0.396	Stabilizing	0.157	N	0.737	prob.delet.	None	None	None	None	N
T/M	0.1021	likely_benign	0.0967	benign	0.24	Stabilizing	0.909	D	0.787	deleterious	None	None	None	None	N
T/N	0.2867	likely_benign	0.2755	benign	-1.087	Destabilizing	0.567	D	0.749	deleterious	None	None	None	None	N
T/P	0.4685	ambiguous	0.4628	ambiguous	0.028	Stabilizing	0.497	N	0.807	deleterious	N	0.513497056	None	None	N
T/Q	0.4793	ambiguous	0.4567	ambiguous	-0.717	Destabilizing	0.726	D	0.803	deleterious	None	None	None	None	N
T/R	0.4327	ambiguous	0.3842	ambiguous	-0.541	Destabilizing	0.497	N	0.805	deleterious	N	0.47662225	None	None	N
T/S	0.156	likely_benign	0.1572	benign	-1.293	Destabilizing	0.004	N	0.393	neutral	N	0.464492388	None	None	N
T/V	0.0951	likely_benign	0.0921	benign	0.028	Stabilizing	0.001	N	0.419	neutral	None	None	None	None	N
T/W	0.8173	likely_pathogenic	0.8063	pathogenic	-0.848	Destabilizing	0.968	D	0.799	deleterious	None	None	None	None	N
T/Y	0.463	ambiguous	0.4491	ambiguous	-0.36	Destabilizing	0.726	D	0.814	deleterious	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.