TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8897	26914;26915;26916	chr2:178713969;178713968;178713967	chr2:179578696;179578695;179578694
N2AB	8580	25963;25964;25965	chr2:178713969;178713968;178713967	chr2:179578696;179578695;179578694
N2A	7653	23182;23183;23184	chr2:178713969;178713968;178713967	chr2:179578696;179578695;179578694
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: S
• RefSeq wild type transcript codon: AGT
• RefSeq wild type template codon: TCA
• Domain: Ig-74
• Domain position: 68
• Structural Position: 151
• Q(SASA): 0.1866
• 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
S/C	None	None	1.0	N	0.834	0.585	0.474168873855	gnomAD-4.0.0	1.20034E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.31253E-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
S/A	0.0759	likely_benign	0.0751	benign	-0.718	Destabilizing	0.998	D	0.473	neutral	None	None	None	None	N
S/C	0.1268	likely_benign	0.1174	benign	-0.413	Destabilizing	1.0	D	0.834	deleterious	N	0.506727235	None	None	N
S/D	0.3386	likely_benign	0.4142	ambiguous	0.129	Stabilizing	0.999	D	0.565	neutral	None	None	None	None	N
S/E	0.3982	ambiguous	0.4396	ambiguous	0.074	Stabilizing	0.999	D	0.556	neutral	None	None	None	None	N
S/F	0.2403	likely_benign	0.2633	benign	-1.166	Destabilizing	1.0	D	0.898	deleterious	None	None	None	None	N
S/G	0.0783	likely_benign	0.0843	benign	-0.888	Destabilizing	0.999	D	0.532	neutral	N	0.486697196	None	None	N
S/H	0.3296	likely_benign	0.3395	benign	-1.413	Destabilizing	1.0	D	0.849	deleterious	None	None	None	None	N
S/I	0.1631	likely_benign	0.1773	benign	-0.384	Destabilizing	1.0	D	0.864	deleterious	N	0.504574414	None	None	N
S/K	0.4329	ambiguous	0.4425	ambiguous	-0.518	Destabilizing	0.999	D	0.554	neutral	None	None	None	None	N
S/L	0.109	likely_benign	0.1142	benign	-0.384	Destabilizing	1.0	D	0.745	deleterious	None	None	None	None	N
S/M	0.197	likely_benign	0.2048	benign	0.004	Stabilizing	1.0	D	0.845	deleterious	None	None	None	None	N
S/N	0.1366	likely_benign	0.1567	benign	-0.322	Destabilizing	0.999	D	0.554	neutral	N	0.497306259	None	None	N
S/P	0.6935	likely_pathogenic	0.7428	pathogenic	-0.465	Destabilizing	1.0	D	0.851	deleterious	None	None	None	None	N
S/Q	0.3989	ambiguous	0.407	ambiguous	-0.572	Destabilizing	1.0	D	0.759	deleterious	None	None	None	None	N
S/R	0.3201	likely_benign	0.3219	benign	-0.364	Destabilizing	1.0	D	0.85	deleterious	N	0.492862487	None	None	N
S/T	0.0821	likely_benign	0.0916	benign	-0.454	Destabilizing	0.999	D	0.502	neutral	N	0.514993858	None	None	N
S/V	0.1891	likely_benign	0.2078	benign	-0.465	Destabilizing	1.0	D	0.826	deleterious	None	None	None	None	N
S/W	0.378	ambiguous	0.4157	ambiguous	-1.09	Destabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
S/Y	0.2194	likely_benign	0.2347	benign	-0.835	Destabilizing	1.0	D	0.899	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.