TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15573	46942;46943;46944	chr2:178618833;178618832;178618831	chr2:179483560;179483559;179483558
N2AB	13932	42019;42020;42021	chr2:178618833;178618832;178618831	chr2:179483560;179483559;179483558
N2A	13005	39238;39239;39240	chr2:178618833;178618832;178618831	chr2:179483560;179483559;179483558
N2B	6508	19747;19748;19749	chr2:178618833;178618832;178618831	chr2:179483560;179483559;179483558
Novex-1	6633	20122;20123;20124	chr2:178618833;178618832;178618831	chr2:179483560;179483559;179483558
Novex-2	6700	20323;20324;20325	chr2:178618833;178618832;178618831	chr2:179483560;179483559;179483558
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: A
• RefSeq wild type transcript codon: GCT
• RefSeq wild type template codon: CGA
• Domain: Ig-108
• Domain position: 6
• Structural Position: 7
• Q(SASA): 0.3428
• 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
A/T	None	None	None	N	0.121	0.077	0.28722502521	gnomAD-4.0.0	1.60088E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.44105E-05	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
A/C	0.3197	likely_benign	0.4113	ambiguous	-0.774	Destabilizing	0.628	D	0.525	neutral	None	None	None	None	N
A/D	0.1618	likely_benign	0.2187	benign	-0.474	Destabilizing	None	N	0.287	neutral	N	0.443607298	None	None	N
A/E	0.1646	likely_benign	0.2032	benign	-0.63	Destabilizing	0.016	N	0.454	neutral	None	None	None	None	N
A/F	0.237	likely_benign	0.3035	benign	-0.898	Destabilizing	0.214	N	0.511	neutral	None	None	None	None	N
A/G	0.0797	likely_benign	0.0767	benign	-0.174	Destabilizing	None	N	0.099	neutral	N	0.443607298	None	None	N
A/H	0.3167	likely_benign	0.379	ambiguous	-0.245	Destabilizing	0.628	D	0.509	neutral	None	None	None	None	N
A/I	0.1592	likely_benign	0.2229	benign	-0.363	Destabilizing	0.038	N	0.464	neutral	None	None	None	None	N
A/K	0.2482	likely_benign	0.2808	benign	-0.481	Destabilizing	0.072	N	0.471	neutral	None	None	None	None	N
A/L	0.117	likely_benign	0.1443	benign	-0.363	Destabilizing	None	N	0.216	neutral	None	None	None	None	N
A/M	0.1557	likely_benign	0.2047	benign	-0.474	Destabilizing	0.214	N	0.522	neutral	None	None	None	None	N
A/N	0.1433	likely_benign	0.1798	benign	-0.187	Destabilizing	0.038	N	0.466	neutral	None	None	None	None	N
A/P	0.1307	likely_benign	0.167	benign	-0.274	Destabilizing	0.106	N	0.53	neutral	N	0.484499307	None	None	N
A/Q	0.2142	likely_benign	0.2409	benign	-0.456	Destabilizing	0.214	N	0.543	neutral	None	None	None	None	N
A/R	0.2398	likely_benign	0.2717	benign	-0.073	Destabilizing	0.072	N	0.545	neutral	None	None	None	None	N
A/S	0.0774	likely_benign	0.0827	benign	-0.351	Destabilizing	None	N	0.154	neutral	N	0.485155052	None	None	N
A/T	0.0707	likely_benign	0.0808	benign	-0.436	Destabilizing	None	N	0.121	neutral	N	0.442889034	None	None	N
A/V	0.0981	likely_benign	0.1232	benign	-0.274	Destabilizing	0.012	N	0.377	neutral	N	0.484623344	None	None	N
A/W	0.4768	ambiguous	0.5668	pathogenic	-1.013	Destabilizing	0.864	D	0.559	neutral	None	None	None	None	N
A/Y	0.3052	likely_benign	0.3989	ambiguous	-0.68	Destabilizing	0.628	D	0.517	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.