TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	27177	81754;81755;81756	chr2:178564603;178564602;178564601	chr2:179429330;179429329;179429328
N2AB	25536	76831;76832;76833	chr2:178564603;178564602;178564601	chr2:179429330;179429329;179429328
N2A	24609	74050;74051;74052	chr2:178564603;178564602;178564601	chr2:179429330;179429329;179429328
N2B	18112	54559;54560;54561	chr2:178564603;178564602;178564601	chr2:179429330;179429329;179429328
Novex-1	18237	54934;54935;54936	chr2:178564603;178564602;178564601	chr2:179429330;179429329;179429328
Novex-2	18304	55135;55136;55137	chr2:178564603;178564602;178564601	chr2:179429330;179429329;179429328
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: Fn3-86
• Domain position: 8
• Structural Position: 9
• Q(SASA): 0.2934
• 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/A	None	None	1.0	N	0.83	0.482	0.485705203746	gnomAD-4.0.0	6.84337E-07	None	None	None	None	N	None	0	0	None	0	2.52653E-05	None	0	0	0	0	0
P/S	rs781633519	-1.413	1.0	D	0.86	0.453	0.555158498789	gnomAD-4.0.0	6.84337E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99538E-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	0.818	likely_pathogenic	0.7558	pathogenic	-2.178	Highly Destabilizing	1.0	D	0.83	deleterious	N	0.49532239	None	None	N
P/C	0.9757	likely_pathogenic	0.9649	pathogenic	-2.307	Highly Destabilizing	1.0	D	0.836	deleterious	None	None	None	None	N
P/D	0.9994	likely_pathogenic	0.9992	pathogenic	-3.136	Highly Destabilizing	1.0	D	0.856	deleterious	None	None	None	None	N
P/E	0.9978	likely_pathogenic	0.997	pathogenic	-2.959	Highly Destabilizing	1.0	D	0.854	deleterious	None	None	None	None	N
P/F	0.9971	likely_pathogenic	0.9957	pathogenic	-1.319	Destabilizing	1.0	D	0.888	deleterious	None	None	None	None	N
P/G	0.9915	likely_pathogenic	0.9879	pathogenic	-2.644	Highly Destabilizing	1.0	D	0.87	deleterious	None	None	None	None	N
P/H	0.9979	likely_pathogenic	0.9967	pathogenic	-2.158	Highly Destabilizing	1.0	D	0.849	deleterious	D	0.548674103	None	None	N
P/I	0.8258	likely_pathogenic	0.7854	pathogenic	-0.891	Destabilizing	1.0	D	0.901	deleterious	None	None	None	None	N
P/K	0.9981	likely_pathogenic	0.9974	pathogenic	-1.767	Destabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
P/L	0.6559	likely_pathogenic	0.5664	pathogenic	-0.891	Destabilizing	1.0	D	0.887	deleterious	N	0.493187994	None	None	N
P/M	0.9508	likely_pathogenic	0.93	pathogenic	-1.308	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	N
P/N	0.9988	likely_pathogenic	0.9982	pathogenic	-2.123	Highly Destabilizing	1.0	D	0.897	deleterious	None	None	None	None	N
P/Q	0.9958	likely_pathogenic	0.9936	pathogenic	-2.073	Highly Destabilizing	1.0	D	0.863	deleterious	None	None	None	None	N
P/R	0.9955	likely_pathogenic	0.9937	pathogenic	-1.497	Destabilizing	1.0	D	0.899	deleterious	D	0.537317798	None	None	N
P/S	0.9915	likely_pathogenic	0.9869	pathogenic	-2.683	Highly Destabilizing	1.0	D	0.86	deleterious	D	0.537064308	None	None	N
P/T	0.9475	likely_pathogenic	0.9241	pathogenic	-2.373	Highly Destabilizing	1.0	D	0.853	deleterious	D	0.530062869	None	None	N
P/V	0.7022	likely_pathogenic	0.6532	pathogenic	-1.295	Destabilizing	1.0	D	0.877	deleterious	None	None	None	None	N
P/W	0.9995	likely_pathogenic	0.9992	pathogenic	-1.704	Destabilizing	1.0	D	0.828	deleterious	None	None	None	None	N
P/Y	0.9991	likely_pathogenic	0.9985	pathogenic	-1.395	Destabilizing	1.0	D	0.895	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.