TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	24003	72232;72233;72234	chr2:178574125;178574124;178574123	chr2:179438852;179438851;179438850
N2AB	22362	67309;67310;67311	chr2:178574125;178574124;178574123	chr2:179438852;179438851;179438850
N2A	21435	64528;64529;64530	chr2:178574125;178574124;178574123	chr2:179438852;179438851;179438850
N2B	14938	45037;45038;45039	chr2:178574125;178574124;178574123	chr2:179438852;179438851;179438850
Novex-1	15063	45412;45413;45414	chr2:178574125;178574124;178574123	chr2:179438852;179438851;179438850
Novex-2	15130	45613;45614;45615	chr2:178574125;178574124;178574123	chr2:179438852;179438851;179438850
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Fn3-62
• Domain position: 80
• Structural Position: 112
• Q(SASA): 0.0882
• 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
N/T	None	None	0.999	N	0.711	0.611	0.374255764437	gnomAD-4.0.0	1.59174E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.8593E-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
N/A	0.9911	likely_pathogenic	0.9943	pathogenic	-1.255	Destabilizing	1.0	D	0.786	deleterious	None	None	None	None	N
N/C	0.9638	likely_pathogenic	0.9664	pathogenic	-0.679	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
N/D	0.9447	likely_pathogenic	0.9551	pathogenic	-1.892	Destabilizing	0.999	D	0.607	neutral	N	0.505522925	None	None	N
N/E	0.9969	likely_pathogenic	0.9976	pathogenic	-1.699	Destabilizing	0.999	D	0.72	prob.delet.	None	None	None	None	N
N/F	0.9982	likely_pathogenic	0.9988	pathogenic	-0.907	Destabilizing	1.0	D	0.826	deleterious	None	None	None	None	N
N/G	0.9775	likely_pathogenic	0.9828	pathogenic	-1.607	Destabilizing	0.999	D	0.583	neutral	None	None	None	None	N
N/H	0.959	likely_pathogenic	0.9688	pathogenic	-1.065	Destabilizing	1.0	D	0.771	deleterious	D	0.545823266	None	None	N
N/I	0.9841	likely_pathogenic	0.99	pathogenic	-0.326	Destabilizing	1.0	D	0.799	deleterious	D	0.539582296	None	None	N
N/K	0.9967	likely_pathogenic	0.9976	pathogenic	-0.367	Destabilizing	1.0	D	0.743	deleterious	D	0.556165614	None	None	N
N/L	0.9731	likely_pathogenic	0.979	pathogenic	-0.326	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
N/M	0.9775	likely_pathogenic	0.9843	pathogenic	-0.034	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	N
N/P	0.9964	likely_pathogenic	0.9971	pathogenic	-0.61	Destabilizing	1.0	D	0.787	deleterious	None	None	None	None	N
N/Q	0.9967	likely_pathogenic	0.9978	pathogenic	-1.134	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
N/R	0.9968	likely_pathogenic	0.9974	pathogenic	-0.349	Destabilizing	1.0	D	0.788	deleterious	None	None	None	None	N
N/S	0.7915	likely_pathogenic	0.8261	pathogenic	-1.304	Destabilizing	0.999	D	0.601	neutral	N	0.509788886	None	None	N
N/T	0.8428	likely_pathogenic	0.8742	pathogenic	-0.936	Destabilizing	0.999	D	0.711	prob.delet.	N	0.510483221	None	None	N
N/V	0.9799	likely_pathogenic	0.9867	pathogenic	-0.61	Destabilizing	1.0	D	0.804	deleterious	None	None	None	None	N
N/W	0.9993	likely_pathogenic	0.9996	pathogenic	-0.736	Destabilizing	1.0	D	0.792	deleterious	None	None	None	None	N
N/Y	0.9791	likely_pathogenic	0.9843	pathogenic	-0.426	Destabilizing	1.0	D	0.805	deleterious	D	0.545823266	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.