TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15499	46720;46721;46722	chr2:178619822;178619821;178619820	chr2:179484549;179484548;179484547
N2AB	13858	41797;41798;41799	chr2:178619822;178619821;178619820	chr2:179484549;179484548;179484547
N2A	12931	39016;39017;39018	chr2:178619822;178619821;178619820	chr2:179484549;179484548;179484547
N2B	6434	19525;19526;19527	chr2:178619822;178619821;178619820	chr2:179484549;179484548;179484547
Novex-1	6559	19900;19901;19902	chr2:178619822;178619821;178619820	chr2:179484549;179484548;179484547
Novex-2	6626	20101;20102;20103	chr2:178619822;178619821;178619820	chr2:179484549;179484548;179484547
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: F
• RefSeq wild type transcript codon: TTT
• RefSeq wild type template codon: AAA
• Domain: Ig-107
• Domain position: 20
• Structural Position: 30
• Q(SASA): 0.0994
• 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
F/V	None	None	0.978	D	0.715	0.751	0.896460130579	gnomAD-4.0.0	1.5945E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86449E-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
F/A	0.9968	likely_pathogenic	0.9976	pathogenic	-2.476	Highly Destabilizing	0.992	D	0.783	deleterious	None	None	None	None	N
F/C	0.983	likely_pathogenic	0.9867	pathogenic	-1.142	Destabilizing	1.0	D	0.82	deleterious	D	0.672553988	None	None	N
F/D	0.9996	likely_pathogenic	0.9997	pathogenic	-3.373	Highly Destabilizing	0.999	D	0.853	deleterious	None	None	None	None	N
F/E	0.9995	likely_pathogenic	0.9996	pathogenic	-3.133	Highly Destabilizing	0.999	D	0.853	deleterious	None	None	None	None	N
F/G	0.9984	likely_pathogenic	0.9987	pathogenic	-2.912	Highly Destabilizing	0.999	D	0.833	deleterious	None	None	None	None	N
F/H	0.9951	likely_pathogenic	0.9964	pathogenic	-2.299	Highly Destabilizing	0.995	D	0.742	deleterious	None	None	None	None	N
F/I	0.8961	likely_pathogenic	0.9184	pathogenic	-1.026	Destabilizing	0.997	D	0.709	prob.delet.	D	0.654419432	None	None	N
F/K	0.9994	likely_pathogenic	0.9996	pathogenic	-2.101	Highly Destabilizing	0.998	D	0.852	deleterious	None	None	None	None	N
F/L	0.9644	likely_pathogenic	0.9682	pathogenic	-1.026	Destabilizing	0.978	D	0.639	neutral	N	0.505138408	None	None	N
F/M	0.9437	likely_pathogenic	0.9474	pathogenic	-0.75	Destabilizing	1.0	D	0.685	prob.neutral	None	None	None	None	N
F/N	0.9986	likely_pathogenic	0.9989	pathogenic	-2.838	Highly Destabilizing	0.999	D	0.851	deleterious	None	None	None	None	N
F/P	0.9999	likely_pathogenic	0.9999	pathogenic	-1.526	Destabilizing	0.999	D	0.861	deleterious	None	None	None	None	N
F/Q	0.9988	likely_pathogenic	0.9992	pathogenic	-2.554	Highly Destabilizing	0.999	D	0.858	deleterious	None	None	None	None	N
F/R	0.9983	likely_pathogenic	0.9989	pathogenic	-2.167	Highly Destabilizing	0.998	D	0.846	deleterious	None	None	None	None	N
F/S	0.9975	likely_pathogenic	0.9982	pathogenic	-3.123	Highly Destabilizing	0.997	D	0.829	deleterious	D	0.672553988	None	None	N
F/T	0.998	likely_pathogenic	0.9987	pathogenic	-2.758	Highly Destabilizing	0.998	D	0.831	deleterious	None	None	None	None	N
F/V	0.9353	likely_pathogenic	0.9491	pathogenic	-1.526	Destabilizing	0.978	D	0.715	prob.delet.	D	0.592312708	None	None	N
F/W	0.9538	likely_pathogenic	0.9639	pathogenic	-0.519	Destabilizing	0.999	D	0.663	neutral	None	None	None	None	N
F/Y	0.6417	likely_pathogenic	0.6899	pathogenic	-0.958	Destabilizing	0.198	N	0.223	neutral	D	0.672476025	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.