TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6337	19234;19235;19236	chr2:178729029;178729028;178729027	chr2:179593756;179593755;179593754
N2AB	6020	18283;18284;18285	chr2:178729029;178729028;178729027	chr2:179593756;179593755;179593754
N2A	5093	15502;15503;15504	chr2:178729029;178729028;178729027	chr2:179593756;179593755;179593754
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: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-47
• Domain position: 46
• Structural Position: 115
• Q(SASA): 0.4207
• 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
N/S	None	None	0.065	N	0.122	0.105	0.0884992946249	gnomAD-4.0.0	1.59328E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43484E-05	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
N/A	0.2253	likely_benign	0.1686	benign	-0.631	Destabilizing	0.329	N	0.331	neutral	None	None	None	None	N
N/C	0.2916	likely_benign	0.2363	benign	0.306	Stabilizing	0.995	D	0.509	neutral	None	None	None	None	N
N/D	0.1235	likely_benign	0.1052	benign	-0.59	Destabilizing	0.642	D	0.313	neutral	N	0.450310063	None	None	N
N/E	0.3729	ambiguous	0.2872	benign	-0.555	Destabilizing	0.495	N	0.281	neutral	None	None	None	None	N
N/F	0.5059	ambiguous	0.4134	ambiguous	-0.661	Destabilizing	0.807	D	0.545	neutral	None	None	None	None	N
N/G	0.277	likely_benign	0.2227	benign	-0.915	Destabilizing	0.495	N	0.277	neutral	None	None	None	None	N
N/H	0.1002	likely_benign	0.0883	benign	-0.928	Destabilizing	0.013	N	0.188	neutral	N	0.488896895	None	None	N
N/I	0.242	likely_benign	0.1858	benign	0.066	Stabilizing	0.863	D	0.539	neutral	N	0.466630346	None	None	N
N/K	0.2332	likely_benign	0.1825	benign	-0.223	Destabilizing	0.01	N	0.093	neutral	N	0.462939658	None	None	N
N/L	0.2496	likely_benign	0.1982	benign	0.066	Stabilizing	0.543	D	0.453	neutral	None	None	None	None	N
N/M	0.3383	likely_benign	0.2739	benign	0.693	Stabilizing	0.981	D	0.459	neutral	None	None	None	None	N
N/P	0.7516	likely_pathogenic	0.6611	pathogenic	-0.137	Destabilizing	0.944	D	0.509	neutral	None	None	None	None	N
N/Q	0.3167	likely_benign	0.2446	benign	-0.79	Destabilizing	0.704	D	0.403	neutral	None	None	None	None	N
N/R	0.2468	likely_benign	0.1966	benign	-0.204	Destabilizing	0.543	D	0.298	neutral	None	None	None	None	N
N/S	0.0841	likely_benign	0.077	benign	-0.599	Destabilizing	0.065	N	0.122	neutral	N	0.477949183	None	None	N
N/T	0.13	likely_benign	0.1071	benign	-0.397	Destabilizing	0.473	N	0.279	neutral	N	0.459780264	None	None	N
N/V	0.2415	likely_benign	0.1902	benign	-0.137	Destabilizing	0.704	D	0.523	neutral	None	None	None	None	N
N/W	0.7867	likely_pathogenic	0.7067	pathogenic	-0.525	Destabilizing	0.985	D	0.51	neutral	None	None	None	None	N
N/Y	0.1821	likely_benign	0.1542	benign	-0.302	Destabilizing	0.006	N	0.324	neutral	N	0.461528238	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.