TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7950	24073;24074;24075	chr2:178719644;178719643;178719642	chr2:179584371;179584370;179584369
N2AB	7633	23122;23123;23124	chr2:178719644;178719643;178719642	chr2:179584371;179584370;179584369
N2A	6706	20341;20342;20343	chr2:178719644;178719643;178719642	chr2:179584371;179584370;179584369
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: C
• RefSeq wild type transcript codon: TGT
• RefSeq wild type template codon: ACA
• Domain: Ig-64
• Domain position: 62
• Structural Position: 143
• Q(SASA): 0.435
• 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
C/S	None	None	None	N	0.079	0.127	0.0482279557977	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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
C/A	0.1032	likely_benign	0.1173	benign	-1.459	Destabilizing	None	N	0.061	neutral	None	None	None	None	N
C/D	0.1502	likely_benign	0.1741	benign	-0.164	Destabilizing	0.009	N	0.335	neutral	None	None	None	None	N
C/E	0.2557	likely_benign	0.2972	benign	-0.11	Destabilizing	None	N	0.163	neutral	None	None	None	None	N
C/F	0.0722	likely_benign	0.077	benign	-0.935	Destabilizing	0.033	N	0.451	neutral	N	0.416458007	None	None	N
C/G	0.0721	likely_benign	0.077	benign	-1.725	Destabilizing	0.003	N	0.273	neutral	N	0.375302031	None	None	N
C/H	0.1021	likely_benign	0.1201	benign	-1.69	Destabilizing	0.245	N	0.417	neutral	None	None	None	None	N
C/I	0.1759	likely_benign	0.2052	benign	-0.8	Destabilizing	0.009	N	0.302	neutral	None	None	None	None	N
C/K	0.2158	likely_benign	0.2612	benign	-0.825	Destabilizing	0.009	N	0.333	neutral	None	None	None	None	N
C/L	0.155	likely_benign	0.1638	benign	-0.8	Destabilizing	0.001	N	0.228	neutral	None	None	None	None	N
C/M	0.2482	likely_benign	0.2648	benign	0.029	Stabilizing	0.002	N	0.194	neutral	None	None	None	None	N
C/N	0.0972	likely_benign	0.1129	benign	-0.652	Destabilizing	0.009	N	0.345	neutral	None	None	None	None	N
C/P	0.5131	ambiguous	0.601	pathogenic	-0.993	Destabilizing	0.044	N	0.422	neutral	None	None	None	None	N
C/Q	0.1638	likely_benign	0.1894	benign	-0.663	Destabilizing	0.044	N	0.417	neutral	None	None	None	None	N
C/R	0.0958	likely_benign	0.1119	benign	-0.545	Destabilizing	0.033	N	0.423	neutral	N	0.33534092	None	None	N
C/S	0.0687	likely_benign	0.0761	benign	-1.195	Destabilizing	None	N	0.079	neutral	N	0.262304599	None	None	N
C/T	0.1152	likely_benign	0.1333	benign	-0.977	Destabilizing	0.004	N	0.239	neutral	None	None	None	None	N
C/V	0.1623	likely_benign	0.1775	benign	-0.993	Destabilizing	0.004	N	0.291	neutral	None	None	None	None	N
C/W	0.1641	likely_benign	0.1785	benign	-0.887	Destabilizing	0.737	D	0.361	neutral	N	0.464673242	None	None	N
C/Y	0.0732	likely_benign	0.0819	benign	-0.878	Destabilizing	0.065	N	0.415	neutral	N	0.3996804	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.