TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7271	22036;22037;22038	chr2:178723196;178723195;178723194	chr2:179587923;179587922;179587921
N2AB	6954	21085;21086;21087	chr2:178723196;178723195;178723194	chr2:179587923;179587922;179587921
N2A	6027	18304;18305;18306	chr2:178723196;178723195;178723194	chr2:179587923;179587922;179587921
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: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-57
• Domain position: 42
• Structural Position: 59
• Q(SASA): 0.7072
• 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/A	None	None	None	D	0.131	0.09	0.0297737177859	gnomAD-4.0.0	3.3609E-05	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.675E-05	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	0.0678	likely_benign	0.0692	benign	-0.179	Destabilizing	None	N	0.131	neutral	D	0.523245195	None	None	N
T/C	0.3498	ambiguous	0.3374	benign	-0.399	Destabilizing	0.356	N	0.319	neutral	None	None	None	None	N
T/D	0.2092	likely_benign	0.2167	benign	0.085	Stabilizing	0.038	N	0.341	neutral	None	None	None	None	N
T/E	0.1704	likely_benign	0.1746	benign	0.003	Stabilizing	0.001	N	0.206	neutral	None	None	None	None	N
T/F	0.1291	likely_benign	0.1329	benign	-0.852	Destabilizing	0.214	N	0.373	neutral	None	None	None	None	N
T/G	0.171	likely_benign	0.1746	benign	-0.247	Destabilizing	0.016	N	0.347	neutral	None	None	None	None	N
T/H	0.159	likely_benign	0.1544	benign	-0.426	Destabilizing	0.356	N	0.335	neutral	None	None	None	None	N
T/I	0.1068	likely_benign	0.1059	benign	-0.123	Destabilizing	None	N	0.183	neutral	D	0.523015909	None	None	N
T/K	0.122	likely_benign	0.116	benign	-0.271	Destabilizing	0.016	N	0.33	neutral	None	None	None	None	N
T/L	0.0769	likely_benign	0.0783	benign	-0.123	Destabilizing	0.002	N	0.281	neutral	None	None	None	None	N
T/M	0.0851	likely_benign	0.0868	benign	-0.19	Destabilizing	0.007	N	0.263	neutral	None	None	None	None	N
T/N	0.0924	likely_benign	0.0947	benign	-0.15	Destabilizing	0.029	N	0.187	neutral	N	0.516452509	None	None	N
T/P	0.0883	likely_benign	0.0902	benign	-0.117	Destabilizing	0.055	N	0.373	neutral	N	0.501928561	None	None	N
T/Q	0.144	likely_benign	0.1415	benign	-0.315	Destabilizing	0.072	N	0.379	neutral	None	None	None	None	N
T/R	0.0972	likely_benign	0.0955	benign	-0.017	Destabilizing	None	N	0.207	neutral	None	None	None	None	N
T/S	0.0837	likely_benign	0.0871	benign	-0.3	Destabilizing	None	N	0.155	neutral	N	0.462119379	None	None	N
T/V	0.1011	likely_benign	0.1005	benign	-0.117	Destabilizing	0.006	N	0.163	neutral	None	None	None	None	N
T/W	0.3868	ambiguous	0.3941	ambiguous	-0.953	Destabilizing	0.864	D	0.344	neutral	None	None	None	None	N
T/Y	0.1725	likely_benign	0.1724	benign	-0.616	Destabilizing	0.356	N	0.352	neutral	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.