TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30399	91420;91421;91422	chr2:178551705;178551704;178551703	chr2:179416432;179416431;179416430
N2AB	28758	86497;86498;86499	chr2:178551705;178551704;178551703	chr2:179416432;179416431;179416430
N2A	27831	83716;83717;83718	chr2:178551705;178551704;178551703	chr2:179416432;179416431;179416430
N2B	21334	64225;64226;64227	chr2:178551705;178551704;178551703	chr2:179416432;179416431;179416430
Novex-1	21459	64600;64601;64602	chr2:178551705;178551704;178551703	chr2:179416432;179416431;179416430
Novex-2	21526	64801;64802;64803	chr2:178551705;178551704;178551703	chr2:179416432;179416431;179416430
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: V
• RefSeq wild type transcript codon: GTA
• RefSeq wild type template codon: CAT
• Domain: Fn3-109
• Domain position: 76
• Structural Position: 108
• Q(SASA): 0.0554
• 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
V/A	rs368264432	None	0.999	D	0.619	0.819	None	gnomAD-4.0.0	2.40064E-06	None	None	None	None	N	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
V/A	0.4764	ambiguous	0.5111	ambiguous	-2.627	Highly Destabilizing	0.999	D	0.619	neutral	D	0.537996037	None	None	N
V/C	0.8657	likely_pathogenic	0.8784	pathogenic	-1.758	Destabilizing	1.0	D	0.806	deleterious	None	None	None	None	N
V/D	0.9953	likely_pathogenic	0.9963	pathogenic	-3.082	Highly Destabilizing	1.0	D	0.898	deleterious	None	None	None	None	N
V/E	0.9905	likely_pathogenic	0.9916	pathogenic	-2.782	Highly Destabilizing	1.0	D	0.887	deleterious	D	0.638538087	None	None	N
V/F	0.8707	likely_pathogenic	0.8803	pathogenic	-1.276	Destabilizing	1.0	D	0.84	deleterious	None	None	None	None	N
V/G	0.7835	likely_pathogenic	0.8069	pathogenic	-3.162	Highly Destabilizing	1.0	D	0.895	deleterious	D	0.638538087	None	None	N
V/H	0.9969	likely_pathogenic	0.9975	pathogenic	-2.8	Highly Destabilizing	1.0	D	0.869	deleterious	None	None	None	None	N
V/I	0.1103	likely_benign	0.1137	benign	-1.042	Destabilizing	0.997	D	0.587	neutral	N	0.494271747	None	None	N
V/K	0.9958	likely_pathogenic	0.9961	pathogenic	-1.809	Destabilizing	1.0	D	0.887	deleterious	None	None	None	None	N
V/L	0.6533	likely_pathogenic	0.6598	pathogenic	-1.042	Destabilizing	0.997	D	0.637	neutral	N	0.519950553	None	None	N
V/M	0.6828	likely_pathogenic	0.6986	pathogenic	-1.401	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
V/N	0.9722	likely_pathogenic	0.9784	pathogenic	-2.423	Highly Destabilizing	1.0	D	0.899	deleterious	None	None	None	None	N
V/P	0.9905	likely_pathogenic	0.9936	pathogenic	-1.559	Destabilizing	1.0	D	0.889	deleterious	None	None	None	None	N
V/Q	0.9889	likely_pathogenic	0.9902	pathogenic	-2.064	Highly Destabilizing	1.0	D	0.891	deleterious	None	None	None	None	N
V/R	0.9899	likely_pathogenic	0.9908	pathogenic	-1.925	Destabilizing	1.0	D	0.9	deleterious	None	None	None	None	N
V/S	0.7919	likely_pathogenic	0.8257	pathogenic	-2.863	Highly Destabilizing	1.0	D	0.884	deleterious	None	None	None	None	N
V/T	0.5705	likely_pathogenic	0.6113	pathogenic	-2.427	Highly Destabilizing	0.999	D	0.672	neutral	None	None	None	None	N
V/W	0.9983	likely_pathogenic	0.9986	pathogenic	-1.648	Destabilizing	1.0	D	0.852	deleterious	None	None	None	None	N
V/Y	0.9882	likely_pathogenic	0.99	pathogenic	-1.543	Destabilizing	1.0	D	0.834	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.