TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	34147	102664;102665;102666	chr2:178534176;178534175;178534174	chr2:179398903;179398902;179398901
N2AB	32506	97741;97742;97743	chr2:178534176;178534175;178534174	chr2:179398903;179398902;179398901
N2A	31579	94960;94961;94962	chr2:178534176;178534175;178534174	chr2:179398903;179398902;179398901
N2B	25082	75469;75470;75471	chr2:178534176;178534175;178534174	chr2:179398903;179398902;179398901
Novex-1	25207	75844;75845;75846	chr2:178534176;178534175;178534174	chr2:179398903;179398902;179398901
Novex-2	25274	76045;76046;76047	chr2:178534176;178534175;178534174	chr2:179398903;179398902;179398901
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGT
• RefSeq wild type template codon: CCA
• Domain: Ig-160
• Domain position: 11
• Structural Position: 16
• Q(SASA): 0.1557
• 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
G/V	None	None	None	N	0.33	0.125	0.208000267992	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
G/A	0.1158	likely_benign	0.1149	benign	-0.627	Destabilizing	None	N	0.101	neutral	N	0.370014507	None	None	N
G/C	0.3158	likely_benign	0.3867	ambiguous	-0.86	Destabilizing	0.78	D	0.577	neutral	N	0.403111147	None	None	N
G/D	0.5314	ambiguous	0.5809	pathogenic	-1.097	Destabilizing	0.062	N	0.554	neutral	N	0.468277347	None	None	N
G/E	0.4437	ambiguous	0.5123	ambiguous	-1.117	Destabilizing	0.081	N	0.545	neutral	None	None	None	None	N
G/F	0.7646	likely_pathogenic	0.7923	pathogenic	-0.807	Destabilizing	0.38	N	0.621	neutral	None	None	None	None	N
G/H	0.7081	likely_pathogenic	0.7229	pathogenic	-1.369	Destabilizing	0.824	D	0.535	neutral	None	None	None	None	N
G/I	0.41	ambiguous	0.4352	ambiguous	-0.13	Destabilizing	0.029	N	0.581	neutral	None	None	None	None	N
G/K	0.662	likely_pathogenic	0.7023	pathogenic	-1.249	Destabilizing	0.081	N	0.551	neutral	None	None	None	None	N
G/L	0.5533	ambiguous	0.5963	pathogenic	-0.13	Destabilizing	0.081	N	0.513	neutral	None	None	None	None	N
G/M	0.634	likely_pathogenic	0.6562	pathogenic	-0.208	Destabilizing	0.38	N	0.592	neutral	None	None	None	None	N
G/N	0.5998	likely_pathogenic	0.6255	pathogenic	-0.98	Destabilizing	0.081	N	0.534	neutral	None	None	None	None	N
G/P	0.953	likely_pathogenic	0.9758	pathogenic	-0.253	Destabilizing	0.38	N	0.579	neutral	None	None	None	None	N
G/Q	0.5863	likely_pathogenic	0.6134	pathogenic	-1.083	Destabilizing	0.38	N	0.573	neutral	None	None	None	None	N
G/R	0.5298	ambiguous	0.5523	ambiguous	-1.044	Destabilizing	0.317	N	0.573	neutral	N	0.486343033	None	None	N
G/S	0.1314	likely_benign	0.1358	benign	-1.259	Destabilizing	None	N	0.147	neutral	N	0.467583914	None	None	N
G/T	0.2145	likely_benign	0.2398	benign	-1.192	Destabilizing	0.081	N	0.464	neutral	None	None	None	None	N
G/V	0.2536	likely_benign	0.2869	benign	-0.253	Destabilizing	None	N	0.33	neutral	N	0.35300204	None	None	N
G/W	0.668	likely_pathogenic	0.7037	pathogenic	-1.263	Destabilizing	0.935	D	0.539	neutral	None	None	None	None	N
G/Y	0.694	likely_pathogenic	0.7166	pathogenic	-0.8	Destabilizing	0.555	D	0.611	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.