TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26644	80155;80156;80157	chr2:178566202;178566201;178566200	chr2:179430929;179430928;179430927
N2AB	25003	75232;75233;75234	chr2:178566202;178566201;178566200	chr2:179430929;179430928;179430927
N2A	24076	72451;72452;72453	chr2:178566202;178566201;178566200	chr2:179430929;179430928;179430927
N2B	17579	52960;52961;52962	chr2:178566202;178566201;178566200	chr2:179430929;179430928;179430927
Novex-1	17704	53335;53336;53337	chr2:178566202;178566201;178566200	chr2:179430929;179430928;179430927
Novex-2	17771	53536;53537;53538	chr2:178566202;178566201;178566200	chr2:179430929;179430928;179430927
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-138
• Domain position: 51
• Structural Position: 134
• Q(SASA): 0.618
• 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/T	None	None	0.815	N	0.397	0.212	0.338834610459	gnomAD-4.0.0	1.59151E-06	None	None	None	None	N	None	0	0	None	0	2.77423E-05	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
N/A	0.2376	likely_benign	0.2092	benign	-0.511	Destabilizing	0.742	D	0.496	neutral	None	None	None	None	N
N/C	0.2321	likely_benign	0.2154	benign	0.082	Stabilizing	0.996	D	0.587	neutral	None	None	None	None	N
N/D	0.1635	likely_benign	0.1436	benign	0.304	Stabilizing	0.003	N	0.139	neutral	N	0.397185253	None	None	N
N/E	0.5159	ambiguous	0.4524	ambiguous	0.361	Stabilizing	0.037	N	0.186	neutral	None	None	None	None	N
N/F	0.4967	ambiguous	0.4589	ambiguous	-0.562	Destabilizing	0.835	D	0.563	neutral	None	None	None	None	N
N/G	0.2402	likely_benign	0.2271	benign	-0.767	Destabilizing	0.742	D	0.324	neutral	None	None	None	None	N
N/H	0.1122	likely_benign	0.1102	benign	-0.453	Destabilizing	0.884	D	0.469	neutral	N	0.509086606	None	None	N
N/I	0.318	likely_benign	0.2834	benign	0.109	Stabilizing	0.884	D	0.565	neutral	N	0.490674204	None	None	N
N/K	0.4682	ambiguous	0.4217	ambiguous	0.082	Stabilizing	0.684	D	0.352	neutral	N	0.469912143	None	None	N
N/L	0.2773	likely_benign	0.2538	benign	0.109	Stabilizing	0.835	D	0.525	neutral	None	None	None	None	N
N/M	0.3993	ambiguous	0.3652	ambiguous	0.113	Stabilizing	0.996	D	0.546	neutral	None	None	None	None	N
N/P	0.6386	likely_pathogenic	0.6065	pathogenic	-0.07	Destabilizing	0.984	D	0.559	neutral	None	None	None	None	N
N/Q	0.3798	ambiguous	0.3431	ambiguous	-0.344	Destabilizing	0.91	D	0.423	neutral	None	None	None	None	N
N/R	0.4532	ambiguous	0.4202	ambiguous	0.102	Stabilizing	0.91	D	0.427	neutral	None	None	None	None	N
N/S	0.0787	likely_benign	0.0776	benign	-0.442	Destabilizing	0.684	D	0.349	neutral	N	0.385506822	None	None	N
N/T	0.1378	likely_benign	0.1268	benign	-0.21	Destabilizing	0.815	D	0.397	neutral	N	0.44796079	None	None	N
N/V	0.3232	likely_benign	0.2879	benign	-0.07	Destabilizing	0.91	D	0.533	neutral	None	None	None	None	N
N/W	0.7508	likely_pathogenic	0.7335	pathogenic	-0.469	Destabilizing	0.987	D	0.585	neutral	None	None	None	None	N
N/Y	0.1663	likely_benign	0.1557	benign	-0.198	Destabilizing	0.015	N	0.376	neutral	N	0.453059965	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.