TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6706	20341;20342;20343	chr2:178727249;178727248;178727247	chr2:179591976;179591975;179591974
N2AB	6389	19390;19391;19392	chr2:178727249;178727248;178727247	chr2:179591976;179591975;179591974
N2A	5462	16609;16610;16611	chr2:178727249;178727248;178727247	chr2:179591976;179591975;179591974
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: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Ig-51
• Domain position: 40
• Structural Position: 55
• Q(SASA): 0.585
• 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	0.002	N	0.145	0.092	0.0884992946249	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
H/A	0.1328	likely_benign	0.1383	benign	0.261	Stabilizing	0.001	N	0.142	neutral	None	None	None	None	N
H/C	0.1694	likely_benign	0.1626	benign	0.796	Stabilizing	0.901	D	0.347	neutral	None	None	None	None	N
H/D	0.111	likely_benign	0.1168	benign	-0.213	Destabilizing	0.061	N	0.339	neutral	N	0.459599149	None	None	N
H/E	0.1251	likely_benign	0.1227	benign	-0.162	Destabilizing	0.036	N	0.187	neutral	None	None	None	None	N
H/F	0.2229	likely_benign	0.2204	benign	1.173	Stabilizing	0.296	N	0.376	neutral	None	None	None	None	N
H/G	0.1802	likely_benign	0.199	benign	-0.054	Destabilizing	0.08	N	0.291	neutral	None	None	None	None	N
H/I	0.1629	likely_benign	0.1528	benign	1.085	Stabilizing	0.174	N	0.461	neutral	None	None	None	None	N
H/K	0.1135	likely_benign	0.1133	benign	0.243	Stabilizing	0.036	N	0.289	neutral	None	None	None	None	N
H/L	0.0875	likely_benign	0.0875	benign	1.085	Stabilizing	0.028	N	0.351	neutral	N	0.441186746	None	None	N
H/M	0.2457	likely_benign	0.2423	benign	0.772	Stabilizing	0.016	N	0.245	neutral	None	None	None	None	N
H/N	0.059	likely_benign	0.0603	benign	0.139	Stabilizing	0.002	N	0.139	neutral	N	0.407882249	None	None	N
H/P	0.3836	ambiguous	0.4921	ambiguous	0.835	Stabilizing	0.391	N	0.417	neutral	N	0.4699895	None	None	N
H/Q	0.0774	likely_benign	0.0767	benign	0.297	Stabilizing	0.002	N	0.145	neutral	N	0.414152073	None	None	N
H/R	0.0628	likely_benign	0.0628	benign	-0.457	Destabilizing	None	N	0.123	neutral	N	0.386794901	None	None	N
H/S	0.118	likely_benign	0.1259	benign	0.32	Stabilizing	0.036	N	0.287	neutral	None	None	None	None	N
H/T	0.1078	likely_benign	0.1124	benign	0.474	Stabilizing	0.002	N	0.18	neutral	None	None	None	None	N
H/V	0.1291	likely_benign	0.1224	benign	0.835	Stabilizing	0.08	N	0.303	neutral	None	None	None	None	N
H/W	0.2985	likely_benign	0.3104	benign	1.219	Stabilizing	0.972	D	0.339	neutral	None	None	None	None	N
H/Y	0.0848	likely_benign	0.0861	benign	1.415	Stabilizing	0.391	N	0.282	neutral	N	0.474203242	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.