TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	25438	76537;76538;76539	chr2:178569820;178569819;178569818	chr2:179434547;179434546;179434545
N2AB	23797	71614;71615;71616	chr2:178569820;178569819;178569818	chr2:179434547;179434546;179434545
N2A	22870	68833;68834;68835	chr2:178569820;178569819;178569818	chr2:179434547;179434546;179434545
N2B	16373	49342;49343;49344	chr2:178569820;178569819;178569818	chr2:179434547;179434546;179434545
Novex-1	16498	49717;49718;49719	chr2:178569820;178569819;178569818	chr2:179434547;179434546;179434545
Novex-2	16565	49918;49919;49920	chr2:178569820;178569819;178569818	chr2:179434547;179434546;179434545
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Fn3-73
• Domain position: 34
• Structural Position: 36
• Q(SASA): 0.6076
• Predicted PPI site: I

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
Q/P	rs1707482810	None	0.979	N	0.423	0.393	0.4018988957	gnomAD-4.0.0	1.5919E-06	None	None	None	None	I	None	0	2.28697E-05	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
Q/A	0.1925	likely_benign	0.1945	benign	-0.409	Destabilizing	0.742	D	0.399	neutral	None	None	None	None	I
Q/C	0.4646	ambiguous	0.4679	ambiguous	0.184	Stabilizing	0.996	D	0.514	neutral	None	None	None	None	I
Q/D	0.3608	ambiguous	0.356	ambiguous	-0.096	Destabilizing	0.009	N	0.143	neutral	None	None	None	None	I
Q/E	0.0744	likely_benign	0.0748	benign	-0.09	Destabilizing	0.309	N	0.41	neutral	N	0.47626682	None	None	I
Q/F	0.5754	likely_pathogenic	0.5794	pathogenic	-0.394	Destabilizing	0.91	D	0.495	neutral	None	None	None	None	I
Q/G	0.2861	likely_benign	0.2898	benign	-0.664	Destabilizing	0.854	D	0.415	neutral	None	None	None	None	I
Q/H	0.1765	likely_benign	0.1752	benign	-0.568	Destabilizing	0.979	D	0.419	neutral	N	0.488169593	None	None	I
Q/I	0.2369	likely_benign	0.2336	benign	0.193	Stabilizing	0.835	D	0.434	neutral	None	None	None	None	I
Q/K	0.0758	likely_benign	0.0765	benign	-0.088	Destabilizing	0.815	D	0.423	neutral	N	0.444386475	None	None	I
Q/L	0.0846	likely_benign	0.0849	benign	0.193	Stabilizing	0.007	N	0.249	neutral	N	0.42995574	None	None	I
Q/M	0.2628	likely_benign	0.2701	benign	0.598	Stabilizing	0.91	D	0.421	neutral	None	None	None	None	I
Q/N	0.2768	likely_benign	0.2793	benign	-0.427	Destabilizing	0.742	D	0.389	neutral	None	None	None	None	I
Q/P	0.4337	ambiguous	0.5119	ambiguous	0.022	Stabilizing	0.979	D	0.423	neutral	N	0.477066777	None	None	I
Q/R	0.09	likely_benign	0.089	benign	0.062	Stabilizing	0.815	D	0.441	neutral	N	0.460356005	None	None	I
Q/S	0.2204	likely_benign	0.2233	benign	-0.482	Destabilizing	0.742	D	0.375	neutral	None	None	None	None	I
Q/T	0.1253	likely_benign	0.1257	benign	-0.303	Destabilizing	0.742	D	0.391	neutral	None	None	None	None	I
Q/V	0.1747	likely_benign	0.1759	benign	0.022	Stabilizing	0.59	D	0.413	neutral	None	None	None	None	I
Q/W	0.4582	ambiguous	0.4568	ambiguous	-0.293	Destabilizing	0.996	D	0.563	neutral	None	None	None	None	I
Q/Y	0.3895	ambiguous	0.397	ambiguous	-0.079	Destabilizing	0.953	D	0.449	neutral	None	None	None	None	I

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.