TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	13859	41800;41801;41802	chr2:178635996;178635995;178635994	chr2:179500723;179500722;179500721
N2AB	12218	36877;36878;36879	chr2:178635996;178635995;178635994	chr2:179500723;179500722;179500721
N2A	11291	34096;34097;34098	chr2:178635996;178635995;178635994	chr2:179500723;179500722;179500721
N2B	4794	14605;14606;14607	chr2:178635996;178635995;178635994	chr2:179500723;179500722;179500721
Novex-1	4919	14980;14981;14982	chr2:178635996;178635995;178635994	chr2:179500723;179500722;179500721
Novex-2	4986	15181;15182;15183	chr2:178635996;178635995;178635994	chr2:179500723;179500722;179500721
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-88
• Domain position: 80
• Structural Position: 164
• Q(SASA): 0.564
• 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
N/K	None	None	0.818	N	0.205	0.134	0.0401082797425	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
N/A	0.4165	ambiguous	0.379	ambiguous	-0.068	Destabilizing	0.71	D	0.319	neutral	None	None	None	None	N
N/C	0.5228	ambiguous	0.4684	ambiguous	0.122	Stabilizing	0.998	D	0.43	neutral	None	None	None	None	N
N/D	0.1589	likely_benign	0.1531	benign	-0.018	Destabilizing	0.79	D	0.315	neutral	N	0.331141431	None	None	N
N/E	0.5902	likely_pathogenic	0.5603	ambiguous	-0.086	Destabilizing	0.71	D	0.217	neutral	None	None	None	None	N
N/F	0.7413	likely_pathogenic	0.7227	pathogenic	-0.69	Destabilizing	0.977	D	0.596	neutral	None	None	None	None	N
N/G	0.3381	likely_benign	0.3024	benign	-0.142	Destabilizing	0.833	D	0.23	neutral	None	None	None	None	N
N/H	0.161	likely_benign	0.1462	benign	-0.171	Destabilizing	0.014	N	0.179	neutral	N	0.339974608	None	None	N
N/I	0.5442	ambiguous	0.4963	ambiguous	0.028	Stabilizing	0.94	D	0.579	neutral	N	0.339450014	None	None	N
N/K	0.4985	ambiguous	0.4574	ambiguous	0.031	Stabilizing	0.818	D	0.205	neutral	N	0.320099173	None	None	N
N/L	0.4595	ambiguous	0.4095	ambiguous	0.028	Stabilizing	0.856	D	0.417	neutral	None	None	None	None	N
N/M	0.6254	likely_pathogenic	0.5746	pathogenic	0.043	Stabilizing	0.992	D	0.39	neutral	None	None	None	None	N
N/P	0.8441	likely_pathogenic	0.799	pathogenic	0.017	Stabilizing	0.992	D	0.515	neutral	None	None	None	None	N
N/Q	0.4874	ambiguous	0.4435	ambiguous	-0.212	Destabilizing	0.923	D	0.287	neutral	None	None	None	None	N
N/R	0.5098	ambiguous	0.4776	ambiguous	0.11	Stabilizing	0.923	D	0.195	neutral	None	None	None	None	N
N/S	0.1201	likely_benign	0.1095	benign	-0.002	Destabilizing	0.481	N	0.257	neutral	N	0.311393489	None	None	N
N/T	0.2893	likely_benign	0.2591	benign	0.025	Stabilizing	0.008	N	0.045	neutral	N	0.271582526	None	None	N
N/V	0.5346	ambiguous	0.4828	ambiguous	0.017	Stabilizing	0.856	D	0.469	neutral	None	None	None	None	N
N/W	0.9232	likely_pathogenic	0.9089	pathogenic	-0.854	Destabilizing	0.998	D	0.482	neutral	None	None	None	None	N
N/Y	0.3119	likely_benign	0.2894	benign	-0.528	Destabilizing	0.94	D	0.528	neutral	N	0.347496488	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.