TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33628	101107;101108;101109	chr2:178535733;178535732;178535731	chr2:179400460;179400459;179400458
N2AB	31987	96184;96185;96186	chr2:178535733;178535732;178535731	chr2:179400460;179400459;179400458
N2A	31060	93403;93404;93405	chr2:178535733;178535732;178535731	chr2:179400460;179400459;179400458
N2B	24563	73912;73913;73914	chr2:178535733;178535732;178535731	chr2:179400460;179400459;179400458
Novex-1	24688	74287;74288;74289	chr2:178535733;178535732;178535731	chr2:179400460;179400459;179400458
Novex-2	24755	74488;74489;74490	chr2:178535733;178535732;178535731	chr2:179400460;179400459;179400458
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-159
• Domain position: 33
• Structural Position: 47
• Q(SASA): 0.2379
• 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
T/I	rs200085900	None	1.0	N	0.761	0.567	0.7073580974	gnomAD-4.0.0	3.18286E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	2.4108E-04	2.85847E-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
T/A	0.6279	likely_pathogenic	0.3664	ambiguous	-0.707	Destabilizing	0.998	D	0.563	neutral	N	0.4976582	None	None	N
T/C	0.9233	likely_pathogenic	0.8069	pathogenic	-0.482	Destabilizing	1.0	D	0.741	deleterious	None	None	None	None	N
T/D	0.9764	likely_pathogenic	0.9194	pathogenic	-0.264	Destabilizing	1.0	D	0.765	deleterious	None	None	None	None	N
T/E	0.9488	likely_pathogenic	0.8327	pathogenic	-0.213	Destabilizing	1.0	D	0.761	deleterious	None	None	None	None	N
T/F	0.9057	likely_pathogenic	0.7312	pathogenic	-0.574	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
T/G	0.8897	likely_pathogenic	0.7961	pathogenic	-1.02	Destabilizing	1.0	D	0.686	prob.neutral	None	None	None	None	N
T/H	0.8772	likely_pathogenic	0.6811	pathogenic	-1.222	Destabilizing	1.0	D	0.768	deleterious	None	None	None	None	N
T/I	0.7918	likely_pathogenic	0.5172	ambiguous	0.048	Stabilizing	1.0	D	0.761	deleterious	N	0.499686116	None	None	N
T/K	0.9294	likely_pathogenic	0.7632	pathogenic	-0.737	Destabilizing	1.0	D	0.767	deleterious	None	None	None	None	N
T/L	0.6356	likely_pathogenic	0.3583	ambiguous	0.048	Stabilizing	1.0	D	0.65	neutral	None	None	None	None	N
T/M	0.5536	ambiguous	0.2809	benign	0.101	Stabilizing	1.0	D	0.741	deleterious	None	None	None	None	N
T/N	0.7569	likely_pathogenic	0.4992	ambiguous	-0.801	Destabilizing	1.0	D	0.716	prob.delet.	N	0.513813898	None	None	N
T/P	0.97	likely_pathogenic	0.9359	pathogenic	-0.17	Destabilizing	1.0	D	0.762	deleterious	D	0.525930672	None	None	N
T/Q	0.8239	likely_pathogenic	0.613	pathogenic	-0.815	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
T/R	0.8951	likely_pathogenic	0.6949	pathogenic	-0.612	Destabilizing	1.0	D	0.765	deleterious	None	None	None	None	N
T/S	0.5757	likely_pathogenic	0.3356	benign	-1.057	Destabilizing	0.998	D	0.539	neutral	N	0.501963059	None	None	N
T/V	0.6503	likely_pathogenic	0.4173	ambiguous	-0.17	Destabilizing	1.0	D	0.579	neutral	None	None	None	None	N
T/W	0.9794	likely_pathogenic	0.9408	pathogenic	-0.595	Destabilizing	1.0	D	0.76	deleterious	None	None	None	None	N
T/Y	0.923	likely_pathogenic	0.7711	pathogenic	-0.335	Destabilizing	1.0	D	0.781	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.