TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6532	19819;19820;19821	chr2:178728230;178728229;178728228	chr2:179592957;179592956;179592955
N2AB	6215	18868;18869;18870	chr2:178728230;178728229;178728228	chr2:179592957;179592956;179592955
N2A	5288	16087;16088;16089	chr2:178728230;178728229;178728228	chr2:179592957;179592956;179592955
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-49
• Domain position: 52
• Structural Position: 130
• Q(SASA): 0.7361
• Predicted PPI site: I

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/L	None	None	0.351	N	0.318	0.302	0.547341738503	gnomAD-4.0.0	1.59275E-06	None	None	None	None	I	None	5.66765E-05	0	None	0	0	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	0.2481	likely_benign	0.1921	benign	0.527	Stabilizing	0.228	N	0.263	neutral	None	None	None	None	I
H/C	0.1973	likely_benign	0.1768	benign	0.679	Stabilizing	0.983	D	0.248	neutral	None	None	None	None	I
H/D	0.1291	likely_benign	0.1091	benign	-0.018	Destabilizing	0.001	N	0.127	neutral	N	0.416192301	None	None	I
H/E	0.1883	likely_benign	0.1529	benign	-0.026	Destabilizing	0.061	N	0.16	neutral	None	None	None	None	I
H/F	0.3157	likely_benign	0.2839	benign	0.884	Stabilizing	0.94	D	0.267	neutral	None	None	None	None	I
H/G	0.2213	likely_benign	0.1737	benign	0.323	Stabilizing	0.228	N	0.282	neutral	None	None	None	None	I
H/I	0.3048	likely_benign	0.2639	benign	1.016	Stabilizing	0.836	D	0.356	neutral	None	None	None	None	I
H/K	0.1734	likely_benign	0.1534	benign	0.465	Stabilizing	0.004	N	0.131	neutral	None	None	None	None	I
H/L	0.1186	likely_benign	0.0989	benign	1.016	Stabilizing	0.351	N	0.318	neutral	N	0.502331205	None	None	I
H/M	0.4368	ambiguous	0.3879	ambiguous	0.743	Stabilizing	0.94	D	0.257	neutral	None	None	None	None	I
H/N	0.0794	likely_benign	0.0694	benign	0.434	Stabilizing	0.183	N	0.158	neutral	N	0.461887305	None	None	I
H/P	0.1981	likely_benign	0.1706	benign	0.877	Stabilizing	0.77	D	0.374	neutral	N	0.502504564	None	None	I
H/Q	0.137	likely_benign	0.1079	benign	0.461	Stabilizing	0.009	N	0.105	neutral	N	0.452075743	None	None	I
H/R	0.0838	likely_benign	0.0717	benign	0.024	Stabilizing	0.001	N	0.139	neutral	N	0.45297982	None	None	I
H/S	0.1696	likely_benign	0.135	benign	0.524	Stabilizing	0.228	N	0.265	neutral	None	None	None	None	I
H/T	0.2274	likely_benign	0.1828	benign	0.604	Stabilizing	0.418	N	0.307	neutral	None	None	None	None	I
H/V	0.238	likely_benign	0.2033	benign	0.877	Stabilizing	0.593	D	0.342	neutral	None	None	None	None	I
H/W	0.3758	ambiguous	0.3421	ambiguous	0.732	Stabilizing	0.983	D	0.249	neutral	None	None	None	None	I
H/Y	0.1162	likely_benign	0.1045	benign	1.065	Stabilizing	0.77	D	0.222	neutral	N	0.484465015	None	None	I

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.