TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7957	24094;24095;24096	chr2:178719623;178719622;178719621	chr2:179584350;179584349;179584348
N2AB	7640	23143;23144;23145	chr2:178719623;178719622;178719621	chr2:179584350;179584349;179584348
N2A	6713	20362;20363;20364	chr2:178719623;178719622;178719621	chr2:179584350;179584349;179584348
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: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-64
• Domain position: 69
• Structural Position: 152
• Q(SASA): 0.2043
• 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/E	None	None	1.0	D	0.863	0.613	0.831099891533	gnomAD-4.0.0	1.59145E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85886E-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
G/A	0.6472	likely_pathogenic	0.7201	pathogenic	-0.621	Destabilizing	0.998	D	0.806	deleterious	D	0.581898836	None	None	N
G/C	0.9393	likely_pathogenic	0.958	pathogenic	-0.543	Destabilizing	1.0	D	0.802	deleterious	None	None	None	None	N
G/D	0.9077	likely_pathogenic	0.9391	pathogenic	-1.275	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	N
G/E	0.9591	likely_pathogenic	0.9732	pathogenic	-1.265	Destabilizing	1.0	D	0.863	deleterious	D	0.668071206	None	None	N
G/F	0.9881	likely_pathogenic	0.9922	pathogenic	-0.842	Destabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
G/H	0.99	likely_pathogenic	0.9941	pathogenic	-1.556	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	N
G/I	0.9858	likely_pathogenic	0.9895	pathogenic	0.003	Stabilizing	1.0	D	0.856	deleterious	None	None	None	None	N
G/K	0.9917	likely_pathogenic	0.9953	pathogenic	-1.108	Destabilizing	1.0	D	0.865	deleterious	None	None	None	None	N
G/L	0.9814	likely_pathogenic	0.9872	pathogenic	0.003	Stabilizing	1.0	D	0.84	deleterious	None	None	None	None	N
G/M	0.9863	likely_pathogenic	0.9914	pathogenic	0.106	Stabilizing	1.0	D	0.806	deleterious	None	None	None	None	N
G/N	0.9582	likely_pathogenic	0.9721	pathogenic	-0.823	Destabilizing	1.0	D	0.851	deleterious	None	None	None	None	N
G/P	0.9985	likely_pathogenic	0.9989	pathogenic	-0.162	Destabilizing	1.0	D	0.849	deleterious	None	None	None	None	N
G/Q	0.9795	likely_pathogenic	0.9878	pathogenic	-0.891	Destabilizing	1.0	D	0.838	deleterious	None	None	None	None	N
G/R	0.9813	likely_pathogenic	0.9879	pathogenic	-0.968	Destabilizing	1.0	D	0.855	deleterious	D	0.667869401	None	None	N
G/S	0.6715	likely_pathogenic	0.7448	pathogenic	-1.092	Destabilizing	0.993	D	0.698	prob.neutral	None	None	None	None	N
G/T	0.9493	likely_pathogenic	0.9642	pathogenic	-0.996	Destabilizing	1.0	D	0.858	deleterious	None	None	None	None	N
G/V	0.9653	likely_pathogenic	0.9735	pathogenic	-0.162	Destabilizing	1.0	D	0.836	deleterious	D	0.668071206	None	None	N
G/W	0.9866	likely_pathogenic	0.9907	pathogenic	-1.412	Destabilizing	1.0	D	0.806	deleterious	None	None	None	None	N
G/Y	0.9826	likely_pathogenic	0.9885	pathogenic	-0.899	Destabilizing	1.0	D	0.851	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.