TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33084	99475;99476;99477	chr2:178538579;178538578;178538577	chr2:179403306;179403305;179403304
N2AB	31443	94552;94553;94554	chr2:178538579;178538578;178538577	chr2:179403306;179403305;179403304
N2A	30516	91771;91772;91773	chr2:178538579;178538578;178538577	chr2:179403306;179403305;179403304
N2B	24019	72280;72281;72282	chr2:178538579;178538578;178538577	chr2:179403306;179403305;179403304
Novex-1	24144	72655;72656;72657	chr2:178538579;178538578;178538577	chr2:179403306;179403305;179403304
Novex-2	24211	72856;72857;72858	chr2:178538579;178538578;178538577	chr2:179403306;179403305;179403304
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Fn3-129
• Domain position: 87
• Structural Position: 120
• Q(SASA): 0.2714
• 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
P/L	None	None	1.0	N	0.761	0.458	0.776403684517	gnomAD-4.0.0	1.59212E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	2.41663E-04	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
P/A	0.3385	likely_benign	0.3997	ambiguous	-1.608	Destabilizing	1.0	D	0.701	prob.neutral	N	0.466035959	None	None	N
P/C	0.9454	likely_pathogenic	0.9558	pathogenic	-0.829	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
P/D	0.9908	likely_pathogenic	0.994	pathogenic	-1.539	Destabilizing	1.0	D	0.71	prob.delet.	None	None	None	None	N
P/E	0.9512	likely_pathogenic	0.9681	pathogenic	-1.477	Destabilizing	1.0	D	0.715	prob.delet.	None	None	None	None	N
P/F	0.977	likely_pathogenic	0.9849	pathogenic	-1.044	Destabilizing	1.0	D	0.787	deleterious	None	None	None	None	N
P/G	0.88	likely_pathogenic	0.9028	pathogenic	-1.982	Destabilizing	1.0	D	0.713	prob.delet.	None	None	None	None	N
P/H	0.9258	likely_pathogenic	0.9453	pathogenic	-1.536	Destabilizing	1.0	D	0.761	deleterious	D	0.528795422	None	None	N
P/I	0.9147	likely_pathogenic	0.9464	pathogenic	-0.647	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	N
P/K	0.9722	likely_pathogenic	0.9827	pathogenic	-1.324	Destabilizing	1.0	D	0.716	prob.delet.	None	None	None	None	N
P/L	0.7594	likely_pathogenic	0.8346	pathogenic	-0.647	Destabilizing	1.0	D	0.761	deleterious	N	0.514904221	None	None	N
P/M	0.9193	likely_pathogenic	0.9421	pathogenic	-0.45	Destabilizing	1.0	D	0.759	deleterious	None	None	None	None	N
P/N	0.9689	likely_pathogenic	0.978	pathogenic	-1.143	Destabilizing	1.0	D	0.763	deleterious	None	None	None	None	N
P/Q	0.839	likely_pathogenic	0.89	pathogenic	-1.239	Destabilizing	1.0	D	0.757	deleterious	None	None	None	None	N
P/R	0.9296	likely_pathogenic	0.9575	pathogenic	-0.869	Destabilizing	1.0	D	0.767	deleterious	N	0.512639723	None	None	N
P/S	0.7234	likely_pathogenic	0.7762	pathogenic	-1.679	Destabilizing	1.0	D	0.722	prob.delet.	N	0.496497251	None	None	N
P/T	0.7785	likely_pathogenic	0.8327	pathogenic	-1.509	Destabilizing	1.0	D	0.715	prob.delet.	N	0.521451588	None	None	N
P/V	0.8147	likely_pathogenic	0.8784	pathogenic	-0.935	Destabilizing	1.0	D	0.713	prob.delet.	None	None	None	None	N
P/W	0.9908	likely_pathogenic	0.9931	pathogenic	-1.336	Destabilizing	1.0	D	0.767	deleterious	None	None	None	None	N
P/Y	0.9749	likely_pathogenic	0.982	pathogenic	-1.027	Destabilizing	1.0	D	0.8	deleterious	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.