TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8340	25243;25244;25245	chr2:178717988;178717987;178717986	chr2:179582715;179582714;179582713
N2AB	8023	24292;24293;24294	chr2:178717988;178717987;178717986	chr2:179582715;179582714;179582713
N2A	7096	21511;21512;21513	chr2:178717988;178717987;178717986	chr2:179582715;179582714;179582713
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-68
• Domain position: 77
• Structural Position: 161
• Q(SASA): 0.1707
• 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
N/S	None	None	1.0	D	0.576	0.7	0.48359635	gnomAD-4.0.0	2.40064E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.625E-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	0.9945	likely_pathogenic	0.9974	pathogenic	-0.686	Destabilizing	1.0	D	0.771	deleterious	None	None	None	None	I
N/C	0.9569	likely_pathogenic	0.9796	pathogenic	-0.268	Destabilizing	1.0	D	0.709	prob.delet.	None	None	None	None	I
N/D	0.9815	likely_pathogenic	0.9879	pathogenic	-1.678	Destabilizing	0.999	D	0.611	neutral	D	0.64236164	None	None	I
N/E	0.9988	likely_pathogenic	0.9994	pathogenic	-1.577	Destabilizing	1.0	D	0.725	prob.delet.	None	None	None	None	I
N/F	0.9988	likely_pathogenic	0.9993	pathogenic	-0.624	Destabilizing	1.0	D	0.751	deleterious	None	None	None	None	I
N/G	0.9851	likely_pathogenic	0.9926	pathogenic	-0.99	Destabilizing	1.0	D	0.559	neutral	None	None	None	None	I
N/H	0.973	likely_pathogenic	0.9857	pathogenic	-0.794	Destabilizing	1.0	D	0.744	deleterious	D	0.65939003	None	None	I
N/I	0.9912	likely_pathogenic	0.9942	pathogenic	0.078	Stabilizing	1.0	D	0.725	prob.delet.	D	0.65959185	None	None	I
N/K	0.9985	likely_pathogenic	0.999	pathogenic	-0.27	Destabilizing	1.0	D	0.745	deleterious	D	0.65898645	None	None	I
N/L	0.9806	likely_pathogenic	0.9877	pathogenic	0.078	Stabilizing	1.0	D	0.741	deleterious	None	None	None	None	I
N/M	0.9941	likely_pathogenic	0.9958	pathogenic	0.522	Stabilizing	1.0	D	0.742	deleterious	None	None	None	None	I
N/P	0.9976	likely_pathogenic	0.9986	pathogenic	-0.148	Destabilizing	1.0	D	0.741	deleterious	None	None	None	None	I
N/Q	0.9984	likely_pathogenic	0.9991	pathogenic	-1.155	Destabilizing	1.0	D	0.756	deleterious	None	None	None	None	I
N/R	0.9966	likely_pathogenic	0.998	pathogenic	-0.164	Destabilizing	1.0	D	0.772	deleterious	None	None	None	None	I
N/S	0.7637	likely_pathogenic	0.8449	pathogenic	-0.932	Destabilizing	1.0	D	0.576	neutral	D	0.58450264	None	None	I
N/T	0.9388	likely_pathogenic	0.9591	pathogenic	-0.672	Destabilizing	1.0	D	0.713	prob.delet.	D	0.6579774	None	None	I
N/V	0.9895	likely_pathogenic	0.9937	pathogenic	-0.148	Destabilizing	1.0	D	0.738	prob.delet.	None	None	None	None	I
N/W	0.9997	likely_pathogenic	0.9998	pathogenic	-0.486	Destabilizing	1.0	D	0.709	prob.delet.	None	None	None	None	I
N/Y	0.9913	likely_pathogenic	0.9945	pathogenic	-0.159	Destabilizing	1.0	D	0.747	deleterious	D	0.65959185	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.