TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7936	24031;24032;24033	chr2:178719686;178719685;178719684	chr2:179584413;179584412;179584411
N2AB	7619	23080;23081;23082	chr2:178719686;178719685;178719684	chr2:179584413;179584412;179584411
N2A	6692	20299;20300;20301	chr2:178719686;178719685;178719684	chr2:179584413;179584412;179584411
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: CAC
• RefSeq wild type template codon: GTG
• Domain: Ig-64
• Domain position: 48
• Structural Position: 122
• Q(SASA): 0.5141
• 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/P	None	None	0.202	N	0.517	0.329	0.410868550352	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	0.158	likely_benign	0.1855	benign	-0.846	Destabilizing	0.015	N	0.339	neutral	None	None	None	None	N
H/C	0.1283	likely_benign	0.1481	benign	-0.034	Destabilizing	0.781	D	0.499	neutral	None	None	None	None	N
H/D	0.1367	likely_benign	0.1561	benign	-0.673	Destabilizing	0.011	N	0.313	neutral	N	0.48986334	None	None	N
H/E	0.1473	likely_benign	0.1682	benign	-0.563	Destabilizing	0.006	N	0.28	neutral	None	None	None	None	N
H/F	0.2525	likely_benign	0.2785	benign	0.409	Stabilizing	0.505	D	0.534	neutral	None	None	None	None	N
H/G	0.1997	likely_benign	0.2367	benign	-1.221	Destabilizing	0.015	N	0.335	neutral	None	None	None	None	N
H/I	0.1834	likely_benign	0.2024	benign	0.2	Stabilizing	0.251	N	0.571	neutral	None	None	None	None	N
H/K	0.1291	likely_benign	0.1435	benign	-0.71	Destabilizing	None	N	0.178	neutral	None	None	None	None	N
H/L	0.0934	likely_benign	0.1021	benign	0.2	Stabilizing	0.049	N	0.389	neutral	N	0.497405388	None	None	N
H/M	0.3065	likely_benign	0.3276	benign	0.069	Stabilizing	0.54	D	0.525	neutral	None	None	None	None	N
H/N	0.0779	likely_benign	0.0847	benign	-0.774	Destabilizing	None	N	0.093	neutral	N	0.442589468	None	None	N
H/P	0.274	likely_benign	0.3842	ambiguous	-0.129	Destabilizing	0.202	N	0.517	neutral	N	0.514164352	None	None	N
H/Q	0.0852	likely_benign	0.0916	benign	-0.469	Destabilizing	None	N	0.087	neutral	N	0.420136683	None	None	N
H/R	0.0667	likely_benign	0.0696	benign	-1.263	Destabilizing	0.025	N	0.285	neutral	N	0.411343842	None	None	N
H/S	0.1272	likely_benign	0.1454	benign	-0.79	Destabilizing	None	N	0.177	neutral	None	None	None	None	N
H/T	0.1368	likely_benign	0.1529	benign	-0.581	Destabilizing	0.015	N	0.353	neutral	None	None	None	None	N
H/V	0.1476	likely_benign	0.1633	benign	-0.129	Destabilizing	0.064	N	0.438	neutral	None	None	None	None	N
H/W	0.3146	likely_benign	0.362	ambiguous	0.631	Stabilizing	0.931	D	0.507	neutral	None	None	None	None	N
H/Y	0.0852	likely_benign	0.0947	benign	0.743	Stabilizing	0.202	N	0.396	neutral	N	0.484060168	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.