TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22709	68350;68351;68352	chr2:178578905;178578904;178578903	chr2:179443632;179443631;179443630
N2AB	21068	63427;63428;63429	chr2:178578905;178578904;178578903	chr2:179443632;179443631;179443630
N2A	20141	60646;60647;60648	chr2:178578905;178578904;178578903	chr2:179443632;179443631;179443630
N2B	13644	41155;41156;41157	chr2:178578905;178578904;178578903	chr2:179443632;179443631;179443630
Novex-1	13769	41530;41531;41532	chr2:178578905;178578904;178578903	chr2:179443632;179443631;179443630
Novex-2	13836	41731;41732;41733	chr2:178578905;178578904;178578903	chr2:179443632;179443631;179443630
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Fn3-52
• Domain position: 67
• Structural Position: 98
• Q(SASA): 0.7865
• 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
H/Q	None	None	0.045	N	0.183	0.145	0.117506650769	gnomAD-4.0.0	1.59223E-06	None	None	None	None	N	None	0	0	None	0	2.77685E-05	None	0	0	0	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
H/A	0.3262	likely_benign	0.3085	benign	0.026	Stabilizing	0.4	N	0.332	neutral	None	None	None	None	N
H/C	0.2062	likely_benign	0.1941	benign	0.574	Stabilizing	0.992	D	0.305	neutral	None	None	None	None	N
H/D	0.384	ambiguous	0.3688	ambiguous	-0.392	Destabilizing	0.379	N	0.343	neutral	N	0.462798877	None	None	N
H/E	0.3341	likely_benign	0.3276	benign	-0.319	Destabilizing	0.25	N	0.241	neutral	None	None	None	None	N
H/F	0.3461	ambiguous	0.3232	benign	1.106	Stabilizing	0.739	D	0.341	neutral	None	None	None	None	N
H/G	0.386	ambiguous	0.3695	ambiguous	-0.309	Destabilizing	0.617	D	0.355	neutral	None	None	None	None	N
H/I	0.3183	likely_benign	0.2633	benign	0.923	Stabilizing	0.739	D	0.361	neutral	None	None	None	None	N
H/K	0.2199	likely_benign	0.225	benign	0.151	Stabilizing	0.447	N	0.353	neutral	None	None	None	None	N
H/L	0.1358	likely_benign	0.1161	benign	0.923	Stabilizing	0.004	N	0.232	neutral	N	0.410657903	None	None	N
H/M	0.4046	ambiguous	0.3662	ambiguous	0.574	Stabilizing	0.85	D	0.313	neutral	None	None	None	None	N
H/N	0.1376	likely_benign	0.1244	benign	-0.065	Destabilizing	0.016	N	0.112	neutral	N	0.439460658	None	None	N
H/P	0.4056	ambiguous	0.3651	ambiguous	0.648	Stabilizing	0.004	N	0.237	neutral	N	0.490524196	None	None	N
H/Q	0.1643	likely_benign	0.1536	benign	0.115	Stabilizing	0.045	N	0.183	neutral	N	0.410311187	None	None	N
H/R	0.1065	likely_benign	0.1041	benign	-0.502	Destabilizing	0.549	D	0.315	neutral	N	0.409905755	None	None	N
H/S	0.2689	likely_benign	0.2569	benign	0.073	Stabilizing	0.617	D	0.337	neutral	None	None	None	None	N
H/T	0.2363	likely_benign	0.2354	benign	0.259	Stabilizing	0.617	D	0.353	neutral	None	None	None	None	N
H/V	0.2433	likely_benign	0.2139	benign	0.648	Stabilizing	0.447	N	0.359	neutral	None	None	None	None	N
H/W	0.4274	ambiguous	0.4037	ambiguous	1.246	Stabilizing	0.992	D	0.334	neutral	None	None	None	None	N
H/Y	0.1364	likely_benign	0.1274	benign	1.369	Stabilizing	0.712	D	0.345	neutral	N	0.509109957	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.