TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15284	46075;46076;46077	chr2:178620760;178620759;178620758	chr2:179485487;179485486;179485485
N2AB	13643	41152;41153;41154	chr2:178620760;178620759;178620758	chr2:179485487;179485486;179485485
N2A	12716	38371;38372;38373	chr2:178620760;178620759;178620758	chr2:179485487;179485486;179485485
N2B	6219	18880;18881;18882	chr2:178620760;178620759;178620758	chr2:179485487;179485486;179485485
Novex-1	6344	19255;19256;19257	chr2:178620760;178620759;178620758	chr2:179485487;179485486;179485485
Novex-2	6411	19456;19457;19458	chr2:178620760;178620759;178620758	chr2:179485487;179485486;179485485
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-104
• Domain position: 77
• Structural Position: 162
• Q(SASA): 1.0446
• 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/R	None	None	0.101	N	0.249	0.123	0.209622950755	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	0.2673	likely_benign	0.2288	benign	0.34	Stabilizing	0.061	N	0.259	neutral	None	None	None	None	N
H/C	0.2997	likely_benign	0.295	benign	0.504	Stabilizing	0.983	D	0.209	neutral	None	None	None	None	N
H/D	0.2245	likely_benign	0.2284	benign	-0.035	Destabilizing	0.183	N	0.291	neutral	N	0.434670283	None	None	N
H/E	0.2989	likely_benign	0.2892	benign	-0.042	Destabilizing	0.061	N	0.237	neutral	None	None	None	None	N
H/F	0.3902	ambiguous	0.3524	ambiguous	0.721	Stabilizing	0.94	D	0.328	neutral	None	None	None	None	N
H/G	0.3403	ambiguous	0.3117	benign	0.133	Stabilizing	0.228	N	0.279	neutral	None	None	None	None	N
H/I	0.3205	likely_benign	0.2868	benign	0.837	Stabilizing	0.593	D	0.261	neutral	None	None	None	None	N
H/K	0.285	likely_benign	0.2673	benign	0.284	Stabilizing	0.129	N	0.297	neutral	None	None	None	None	N
H/L	0.1323	likely_benign	0.1196	benign	0.837	Stabilizing	0.183	N	0.231	neutral	N	0.47456989	None	None	N
H/M	0.498	ambiguous	0.4425	ambiguous	0.613	Stabilizing	0.836	D	0.27	neutral	None	None	None	None	N
H/N	0.0948	likely_benign	0.0874	benign	0.255	Stabilizing	0.183	N	0.253	neutral	N	0.474184059	None	None	N
H/P	0.1454	likely_benign	0.1391	benign	0.695	Stabilizing	0.523	D	0.327	neutral	N	0.41999239	None	None	N
H/Q	0.1514	likely_benign	0.1342	benign	0.282	Stabilizing	0.001	N	0.166	neutral	N	0.366355192	None	None	N
H/R	0.1272	likely_benign	0.132	benign	-0.09	Destabilizing	0.101	N	0.249	neutral	N	0.482578572	None	None	N
H/S	0.1905	likely_benign	0.1724	benign	0.293	Stabilizing	0.012	N	0.155	neutral	None	None	None	None	N
H/T	0.2835	likely_benign	0.2471	benign	0.377	Stabilizing	0.129	N	0.24	neutral	None	None	None	None	N
H/V	0.2778	likely_benign	0.2477	benign	0.695	Stabilizing	0.418	N	0.27	neutral	None	None	None	None	N
H/W	0.5073	ambiguous	0.5189	ambiguous	0.608	Stabilizing	0.983	D	0.258	neutral	None	None	None	None	N
H/Y	0.1369	likely_benign	0.1323	benign	0.924	Stabilizing	0.523	D	0.336	neutral	N	0.475035349	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.