TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9034	27325;27326;27327	chr2:178712925;178712924;178712923	chr2:179577652;179577651;179577650
N2AB	8717	26374;26375;26376	chr2:178712925;178712924;178712923	chr2:179577652;179577651;179577650
N2A	7790	23593;23594;23595	chr2:178712925;178712924;178712923	chr2:179577652;179577651;179577650
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: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-76
• Domain position: 16
• Structural Position: 25
• Q(SASA): 0.2538
• 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
T/S	rs2076876830	None	None	N	0.123	0.05	0.0401082797425	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	2.41E-05	0	0	0	0	None	0	0	0	0	0
T/S	rs2076876830	None	None	N	0.123	0.05	0.0401082797425	gnomAD-4.0.0	6.57117E-06	None	None	None	None	N	None	2.41231E-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
T/A	0.0738	likely_benign	0.0703	benign	-0.903	Destabilizing	None	N	0.128	neutral	N	0.432254179	None	None	N
T/C	0.387	ambiguous	0.3645	ambiguous	-0.522	Destabilizing	0.356	N	0.417	neutral	None	None	None	None	N
T/D	0.2026	likely_benign	0.1958	benign	-0.001	Destabilizing	0.016	N	0.381	neutral	None	None	None	None	N
T/E	0.1466	likely_benign	0.155	benign	-0.015	Destabilizing	None	N	0.172	neutral	None	None	None	None	N
T/F	0.2152	likely_benign	0.2274	benign	-1.148	Destabilizing	0.356	N	0.503	neutral	None	None	None	None	N
T/G	0.1847	likely_benign	0.1633	benign	-1.129	Destabilizing	0.016	N	0.317	neutral	None	None	None	None	N
T/H	0.1839	likely_benign	0.1898	benign	-1.45	Destabilizing	0.356	N	0.467	neutral	None	None	None	None	N
T/I	0.1692	likely_benign	0.1837	benign	-0.398	Destabilizing	0.055	N	0.449	neutral	N	0.453717104	None	None	N
T/K	0.107	likely_benign	0.1159	benign	-0.592	Destabilizing	None	N	0.153	neutral	None	None	None	None	N
T/L	0.1052	likely_benign	0.1103	benign	-0.398	Destabilizing	0.016	N	0.365	neutral	None	None	None	None	N
T/M	0.0809	likely_benign	0.0852	benign	-0.035	Destabilizing	0.356	N	0.419	neutral	None	None	None	None	N
T/N	0.0907	likely_benign	0.0934	benign	-0.505	Destabilizing	0.029	N	0.251	neutral	N	0.430926027	None	None	N
T/P	0.3865	ambiguous	0.4146	ambiguous	-0.535	Destabilizing	0.055	N	0.455	neutral	N	0.47608732	None	None	N
T/Q	0.1297	likely_benign	0.1302	benign	-0.703	Destabilizing	0.038	N	0.455	neutral	None	None	None	None	N
T/R	0.0913	likely_benign	0.0995	benign	-0.376	Destabilizing	0.038	N	0.427	neutral	None	None	None	None	N
T/S	0.0849	likely_benign	0.081	benign	-0.833	Destabilizing	None	N	0.123	neutral	N	0.393079715	None	None	N
T/V	0.132	likely_benign	0.1363	benign	-0.535	Destabilizing	0.016	N	0.249	neutral	None	None	None	None	N
T/W	0.4438	ambiguous	0.4513	ambiguous	-1.044	Destabilizing	0.864	D	0.451	neutral	None	None	None	None	N
T/Y	0.2178	likely_benign	0.2247	benign	-0.804	Destabilizing	0.356	N	0.501	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.