TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	27754	83485;83486;83487	chr2:178562872;178562871;178562870	chr2:179427599;179427598;179427597
N2AB	26113	78562;78563;78564	chr2:178562872;178562871;178562870	chr2:179427599;179427598;179427597
N2A	25186	75781;75782;75783	chr2:178562872;178562871;178562870	chr2:179427599;179427598;179427597
N2B	18689	56290;56291;56292	chr2:178562872;178562871;178562870	chr2:179427599;179427598;179427597
Novex-1	18814	56665;56666;56667	chr2:178562872;178562871;178562870	chr2:179427599;179427598;179427597
Novex-2	18881	56866;56867;56868	chr2:178562872;178562871;178562870	chr2:179427599;179427598;179427597
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCC
• RefSeq wild type template codon: AGG
• Domain: Ig-141
• Domain position: 79
• Structural Position: 165
• Q(SASA): 0.3823
• 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/F	rs1383167179	None	0.99	N	0.662	0.399	0.677844904838	gnomAD-4.0.0	1.59294E-06	None	None	None	None	N	None	0	0	None	0	0	None	1.88558E-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
S/A	0.0811	likely_benign	0.0812	benign	-0.267	Destabilizing	0.656	D	0.445	neutral	N	0.483010211	None	None	N
S/C	0.0796	likely_benign	0.0749	benign	-0.2	Destabilizing	0.997	D	0.573	neutral	D	0.530881423	None	None	N
S/D	0.4987	ambiguous	0.4717	ambiguous	0.073	Stabilizing	0.754	D	0.425	neutral	None	None	None	None	N
S/E	0.4071	ambiguous	0.3829	ambiguous	-0.039	Destabilizing	0.019	N	0.239	neutral	None	None	None	None	N
S/F	0.2116	likely_benign	0.205	benign	-0.987	Destabilizing	0.99	D	0.662	neutral	N	0.49138123	None	None	N
S/G	0.1099	likely_benign	0.1087	benign	-0.329	Destabilizing	0.86	D	0.397	neutral	None	None	None	None	N
S/H	0.2352	likely_benign	0.2208	benign	-0.869	Destabilizing	0.994	D	0.535	neutral	None	None	None	None	N
S/I	0.1231	likely_benign	0.1175	benign	-0.238	Destabilizing	0.978	D	0.655	neutral	None	None	None	None	N
S/K	0.3013	likely_benign	0.2592	benign	-0.338	Destabilizing	0.008	N	0.202	neutral	None	None	None	None	N
S/L	0.0961	likely_benign	0.0979	benign	-0.238	Destabilizing	0.86	D	0.613	neutral	None	None	None	None	N
S/M	0.1393	likely_benign	0.1393	benign	0.041	Stabilizing	0.998	D	0.536	neutral	None	None	None	None	N
S/N	0.1184	likely_benign	0.1134	benign	-0.045	Destabilizing	0.86	D	0.467	neutral	None	None	None	None	N
S/P	0.6442	likely_pathogenic	0.6318	pathogenic	-0.223	Destabilizing	0.97	D	0.498	neutral	N	0.519107044	None	None	N
S/Q	0.2578	likely_benign	0.2435	benign	-0.332	Destabilizing	0.915	D	0.424	neutral	None	None	None	None	N
S/R	0.2896	likely_benign	0.25	benign	-0.141	Destabilizing	0.754	D	0.487	neutral	None	None	None	None	N
S/T	0.0649	likely_benign	0.0635	benign	-0.16	Destabilizing	0.822	D	0.456	neutral	N	0.465469115	None	None	N
S/V	0.1256	likely_benign	0.1228	benign	-0.223	Destabilizing	0.978	D	0.608	neutral	None	None	None	None	N
S/W	0.4002	ambiguous	0.3877	ambiguous	-1.019	Destabilizing	0.998	D	0.703	prob.neutral	None	None	None	None	N
S/Y	0.2017	likely_benign	0.1926	benign	-0.72	Destabilizing	0.99	D	0.662	neutral	N	0.501002789	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.