TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7857	23794;23795;23796	chr2:178720073;178720072;178720071	chr2:179584800;179584799;179584798
N2AB	7540	22843;22844;22845	chr2:178720073;178720072;178720071	chr2:179584800;179584799;179584798
N2A	6613	20062;20063;20064	chr2:178720073;178720072;178720071	chr2:179584800;179584799;179584798
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: S
• RefSeq wild type transcript codon: AGT
• RefSeq wild type template codon: TCA
• Domain: Ig-63
• Domain position: 63
• Structural Position: 143
• Q(SASA): 0.5491
• 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
S/T	None	None	0.324	N	0.376	0.128	0.0920862733494	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-06	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
S/A	0.0871	likely_benign	0.0864	benign	-0.518	Destabilizing	0.207	N	0.427	neutral	None	None	None	None	N
S/C	0.1102	likely_benign	0.098	benign	-0.305	Destabilizing	0.975	D	0.376	neutral	N	0.479698626	None	None	N
S/D	0.1885	likely_benign	0.1624	benign	-0.196	Destabilizing	0.388	N	0.314	neutral	None	None	None	None	N
S/E	0.2587	likely_benign	0.2282	benign	-0.27	Destabilizing	0.241	N	0.321	neutral	None	None	None	None	N
S/F	0.1304	likely_benign	0.1184	benign	-0.996	Destabilizing	0.818	D	0.428	neutral	None	None	None	None	N
S/G	0.0912	likely_benign	0.0834	benign	-0.675	Destabilizing	0.165	N	0.335	neutral	N	0.465617391	None	None	N
S/H	0.1612	likely_benign	0.138	benign	-1.225	Destabilizing	0.818	D	0.336	neutral	None	None	None	None	N
S/I	0.093	likely_benign	0.0856	benign	-0.228	Destabilizing	0.773	D	0.425	neutral	N	0.479698626	None	None	N
S/K	0.2444	likely_benign	0.1958	benign	-0.622	Destabilizing	0.116	N	0.317	neutral	None	None	None	None	N
S/L	0.09	likely_benign	0.0841	benign	-0.228	Destabilizing	0.388	N	0.405	neutral	None	None	None	None	N
S/M	0.1547	likely_benign	0.1422	benign	0.189	Stabilizing	0.981	D	0.335	neutral	None	None	None	None	N
S/N	0.0755	likely_benign	0.0692	benign	-0.394	Destabilizing	0.324	N	0.399	neutral	N	0.417706014	None	None	N
S/P	0.2719	likely_benign	0.2525	benign	-0.294	Destabilizing	0.002	N	0.329	neutral	None	None	None	None	N
S/Q	0.2239	likely_benign	0.1957	benign	-0.687	Destabilizing	0.69	D	0.329	neutral	None	None	None	None	N
S/R	0.186	likely_benign	0.1595	benign	-0.375	Destabilizing	0.001	N	0.301	neutral	N	0.425117563	None	None	N
S/T	0.0801	likely_benign	0.078	benign	-0.476	Destabilizing	0.324	N	0.376	neutral	N	0.505810575	None	None	N
S/V	0.1216	likely_benign	0.1164	benign	-0.294	Destabilizing	0.388	N	0.417	neutral	None	None	None	None	N
S/W	0.2396	likely_benign	0.2202	benign	-0.965	Destabilizing	0.981	D	0.561	neutral	None	None	None	None	N
S/Y	0.1149	likely_benign	0.0994	benign	-0.706	Destabilizing	0.818	D	0.428	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.