TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8898	26917;26918;26919	chr2:178713966;178713965;178713964	chr2:179578693;179578692;179578691
N2AB	8581	25966;25967;25968	chr2:178713966;178713965;178713964	chr2:179578693;179578692;179578691
N2A	7654	23185;23186;23187	chr2:178713966;178713965;178713964	chr2:179578693;179578692;179578691
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: G
• RefSeq wild type transcript codon: GGG
• RefSeq wild type template codon: CCC
• Domain: Ig-74
• Domain position: 69
• Structural Position: 152
• Q(SASA): 0.2102
• 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
G/R	None	None	1.0	D	0.781	0.686	0.888517683932	gnomAD-4.0.0	1.36858E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.79909E-06	0	0
G/V	None	None	1.0	D	0.741	0.67	0.946445688288	gnomAD-4.0.0	1.59167E-06	None	None	None	None	N	None	0	0	None	0	2.77393E-05	None	0	0	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
G/A	0.2675	likely_benign	0.3779	ambiguous	-0.469	Destabilizing	1.0	D	0.749	deleterious	D	0.549627949	None	None	N
G/C	0.6587	likely_pathogenic	0.7839	pathogenic	-0.783	Destabilizing	1.0	D	0.712	prob.delet.	None	None	None	None	N
G/D	0.6478	likely_pathogenic	0.8649	pathogenic	-0.318	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	N
G/E	0.8238	likely_pathogenic	0.9338	pathogenic	-0.385	Destabilizing	1.0	D	0.789	deleterious	D	0.653444832	None	None	N
G/F	0.9584	likely_pathogenic	0.9815	pathogenic	-0.855	Destabilizing	1.0	D	0.717	prob.delet.	None	None	None	None	N
G/H	0.9031	likely_pathogenic	0.9672	pathogenic	-1.012	Destabilizing	1.0	D	0.687	prob.neutral	None	None	None	None	N
G/I	0.9358	likely_pathogenic	0.9737	pathogenic	-0.144	Destabilizing	1.0	D	0.729	prob.delet.	None	None	None	None	N
G/K	0.8945	likely_pathogenic	0.9641	pathogenic	-0.827	Destabilizing	1.0	D	0.787	deleterious	None	None	None	None	N
G/L	0.9025	likely_pathogenic	0.964	pathogenic	-0.144	Destabilizing	1.0	D	0.73	prob.delet.	None	None	None	None	N
G/M	0.925	likely_pathogenic	0.9703	pathogenic	-0.217	Destabilizing	1.0	D	0.707	prob.neutral	None	None	None	None	N
G/N	0.7725	likely_pathogenic	0.9182	pathogenic	-0.505	Destabilizing	1.0	D	0.836	deleterious	None	None	None	None	N
G/P	0.9942	likely_pathogenic	0.9977	pathogenic	-0.21	Destabilizing	1.0	D	0.773	deleterious	None	None	None	None	N
G/Q	0.8506	likely_pathogenic	0.939	pathogenic	-0.642	Destabilizing	1.0	D	0.766	deleterious	None	None	None	None	N
G/R	0.78	likely_pathogenic	0.9015	pathogenic	-0.617	Destabilizing	1.0	D	0.781	deleterious	D	0.653243028	None	None	N
G/S	0.2461	likely_benign	0.3805	ambiguous	-0.846	Destabilizing	1.0	D	0.834	deleterious	None	None	None	None	N
G/T	0.6854	likely_pathogenic	0.8252	pathogenic	-0.812	Destabilizing	1.0	D	0.792	deleterious	None	None	None	None	N
G/V	0.8473	likely_pathogenic	0.9267	pathogenic	-0.21	Destabilizing	1.0	D	0.741	deleterious	D	0.653444832	None	None	N
G/W	0.9303	likely_pathogenic	0.974	pathogenic	-1.18	Destabilizing	1.0	D	0.727	prob.delet.	D	0.637627276	None	None	N
G/Y	0.9348	likely_pathogenic	0.9779	pathogenic	-0.733	Destabilizing	1.0	D	0.707	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.