TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	16699	50320;50321;50322	chr2:178612430;178612429;178612428	chr2:179477157;179477156;179477155
N2AB	15058	45397;45398;45399	chr2:178612430;178612429;178612428	chr2:179477157;179477156;179477155
N2A	14131	42616;42617;42618	chr2:178612430;178612429;178612428	chr2:179477157;179477156;179477155
N2B	7634	23125;23126;23127	chr2:178612430;178612429;178612428	chr2:179477157;179477156;179477155
Novex-1	7759	23500;23501;23502	chr2:178612430;178612429;178612428	chr2:179477157;179477156;179477155
Novex-2	7826	23701;23702;23703	chr2:178612430;178612429;178612428	chr2:179477157;179477156;179477155
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: Fn3-9
• Domain position: 49
• Structural Position: 66
• Q(SASA): 0.5339
• 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
Q/R	None	None	0.997	N	0.583	0.443	0.194818534648	gnomAD-4.0.0	1.59381E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86198E-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
Q/A	0.5152	ambiguous	0.4693	ambiguous	-0.61	Destabilizing	0.997	D	0.551	neutral	None	None	None	None	N
Q/C	0.9614	likely_pathogenic	0.9564	pathogenic	-0.052	Destabilizing	1.0	D	0.711	prob.delet.	None	None	None	None	N
Q/D	0.883	likely_pathogenic	0.9429	pathogenic	-0.231	Destabilizing	0.997	D	0.591	neutral	None	None	None	None	N
Q/E	0.2861	likely_benign	0.4057	ambiguous	-0.135	Destabilizing	0.992	D	0.455	neutral	N	0.483220737	None	None	N
Q/F	0.9268	likely_pathogenic	0.9301	pathogenic	-0.258	Destabilizing	0.999	D	0.715	prob.delet.	None	None	None	None	N
Q/G	0.7633	likely_pathogenic	0.7855	pathogenic	-0.96	Destabilizing	0.997	D	0.576	neutral	None	None	None	None	N
Q/H	0.663	likely_pathogenic	0.7071	pathogenic	-0.627	Destabilizing	0.999	D	0.683	prob.neutral	N	0.479410659	None	None	N
Q/I	0.5698	likely_pathogenic	0.4921	ambiguous	0.278	Stabilizing	0.999	D	0.716	prob.delet.	None	None	None	None	N
Q/K	0.4492	ambiguous	0.6767	pathogenic	-0.291	Destabilizing	0.997	D	0.542	neutral	N	0.479683346	None	None	N
Q/L	0.3581	ambiguous	0.3196	benign	0.278	Stabilizing	0.997	D	0.576	neutral	N	0.482744525	None	None	N
Q/M	0.4896	ambiguous	0.4117	ambiguous	0.525	Stabilizing	0.999	D	0.683	prob.neutral	None	None	None	None	N
Q/N	0.6185	likely_pathogenic	0.5965	pathogenic	-0.831	Destabilizing	0.999	D	0.633	neutral	None	None	None	None	N
Q/P	0.9657	likely_pathogenic	0.9788	pathogenic	0.013	Stabilizing	0.999	D	0.709	prob.delet.	D	0.591610809	None	None	N
Q/R	0.5678	likely_pathogenic	0.7707	pathogenic	-0.196	Destabilizing	0.997	D	0.583	neutral	N	0.477729484	None	None	N
Q/S	0.5298	ambiguous	0.4956	ambiguous	-0.947	Destabilizing	0.997	D	0.554	neutral	None	None	None	None	N
Q/T	0.392	ambiguous	0.3561	ambiguous	-0.654	Destabilizing	0.999	D	0.655	neutral	None	None	None	None	N
Q/V	0.3974	ambiguous	0.3317	benign	0.013	Stabilizing	0.999	D	0.627	neutral	None	None	None	None	N
Q/W	0.9661	likely_pathogenic	0.9799	pathogenic	-0.125	Destabilizing	1.0	D	0.706	prob.neutral	None	None	None	None	N
Q/Y	0.9037	likely_pathogenic	0.9205	pathogenic	0.082	Stabilizing	0.999	D	0.702	prob.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.