TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19039	57340;57341;57342	chr2:178598055;178598054;178598053	chr2:179462782;179462781;179462780
N2AB	17398	52417;52418;52419	chr2:178598055;178598054;178598053	chr2:179462782;179462781;179462780
N2A	16471	49636;49637;49638	chr2:178598055;178598054;178598053	chr2:179462782;179462781;179462780
N2B	9974	30145;30146;30147	chr2:178598055;178598054;178598053	chr2:179462782;179462781;179462780
Novex-1	10099	30520;30521;30522	chr2:178598055;178598054;178598053	chr2:179462782;179462781;179462780
Novex-2	10166	30721;30722;30723	chr2:178598055;178598054;178598053	chr2:179462782;179462781;179462780
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: K
• RefSeq wild type transcript codon: AAA
• RefSeq wild type template codon: TTT
• Domain: Fn3-26
• Domain position: 52
• Structural Position: 69
• Q(SASA): 0.3746
• 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
K/E	None	None	0.834	N	0.49	0.213	0.293147016451	gnomAD-4.0.0	1.20044E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.31264E-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
K/A	0.4844	ambiguous	0.4801	ambiguous	-0.161	Destabilizing	0.87	D	0.56	neutral	None	None	None	None	N
K/C	0.7683	likely_pathogenic	0.6882	pathogenic	-0.389	Destabilizing	0.998	D	0.767	deleterious	None	None	None	None	N
K/D	0.7516	likely_pathogenic	0.7701	pathogenic	0.123	Stabilizing	0.921	D	0.635	neutral	None	None	None	None	N
K/E	0.3509	ambiguous	0.3647	ambiguous	0.198	Stabilizing	0.834	D	0.49	neutral	N	0.473037301	None	None	N
K/F	0.8415	likely_pathogenic	0.8078	pathogenic	-0.068	Destabilizing	0.998	D	0.751	deleterious	None	None	None	None	N
K/G	0.5267	ambiguous	0.5343	ambiguous	-0.451	Destabilizing	0.769	D	0.577	neutral	None	None	None	None	N
K/H	0.4635	ambiguous	0.371	ambiguous	-0.689	Destabilizing	0.989	D	0.713	prob.delet.	None	None	None	None	N
K/I	0.4979	ambiguous	0.4602	ambiguous	0.553	Stabilizing	0.973	D	0.772	deleterious	N	0.485081091	None	None	N
K/L	0.5016	ambiguous	0.4877	ambiguous	0.553	Stabilizing	0.959	D	0.651	neutral	None	None	None	None	N
K/M	0.3695	ambiguous	0.3363	benign	0.162	Stabilizing	0.998	D	0.716	prob.delet.	None	None	None	None	N
K/N	0.5715	likely_pathogenic	0.5637	ambiguous	-0.08	Destabilizing	0.035	N	0.267	neutral	N	0.383396731	None	None	N
K/P	0.7965	likely_pathogenic	0.8344	pathogenic	0.345	Stabilizing	0.979	D	0.725	prob.delet.	None	None	None	None	N
K/Q	0.2209	likely_benign	0.206	benign	-0.12	Destabilizing	0.946	D	0.647	neutral	N	0.502279985	None	None	N
K/R	0.0975	likely_benign	0.0892	benign	-0.273	Destabilizing	0.834	D	0.51	neutral	N	0.472343867	None	None	N
K/S	0.5478	ambiguous	0.5346	ambiguous	-0.613	Destabilizing	0.769	D	0.519	neutral	None	None	None	None	N
K/T	0.2501	likely_benign	0.2264	benign	-0.351	Destabilizing	0.898	D	0.664	neutral	N	0.411468767	None	None	N
K/V	0.4515	ambiguous	0.4255	ambiguous	0.345	Stabilizing	0.979	D	0.721	prob.delet.	None	None	None	None	N
K/W	0.8173	likely_pathogenic	0.7575	pathogenic	-0.054	Destabilizing	0.998	D	0.772	deleterious	None	None	None	None	N
K/Y	0.7576	likely_pathogenic	0.6812	pathogenic	0.27	Stabilizing	0.993	D	0.731	prob.delet.	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.