TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29962	90109;90110;90111	chr2:178553016;178553015;178553014	chr2:179417743;179417742;179417741
N2AB	28321	85186;85187;85188	chr2:178553016;178553015;178553014	chr2:179417743;179417742;179417741
N2A	27394	82405;82406;82407	chr2:178553016;178553015;178553014	chr2:179417743;179417742;179417741
N2B	20897	62914;62915;62916	chr2:178553016;178553015;178553014	chr2:179417743;179417742;179417741
Novex-1	21022	63289;63290;63291	chr2:178553016;178553015;178553014	chr2:179417743;179417742;179417741
Novex-2	21089	63490;63491;63492	chr2:178553016;178553015;178553014	chr2:179417743;179417742;179417741
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Fn3-106
• Domain position: 30
• Structural Position: 32
• Q(SASA): 0.5431
• Predicted PPI site: I

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
G/V	rs915330974	-0.016	1.0	D	0.793	0.552	0.714994035518	gnomAD-2.1.1	4.05E-06	None	None	None	None	I	None	0	2.9E-05	None	0	0	None	0	None	0	0	0
G/V	rs915330974	-0.016	1.0	D	0.793	0.552	0.714994035518	gnomAD-4.0.0	1.59666E-06	None	None	None	None	I	None	0	2.28697E-05	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
G/A	0.8349	likely_pathogenic	0.8116	pathogenic	-0.179	Destabilizing	1.0	D	0.621	neutral	N	0.521733028	None	None	I
G/C	0.8691	likely_pathogenic	0.8491	pathogenic	-0.904	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	I
G/D	0.9757	likely_pathogenic	0.9669	pathogenic	-0.462	Destabilizing	1.0	D	0.704	prob.neutral	None	None	None	None	I
G/E	0.9808	likely_pathogenic	0.9757	pathogenic	-0.622	Destabilizing	1.0	D	0.794	deleterious	D	0.540597751	None	None	I
G/F	0.9793	likely_pathogenic	0.976	pathogenic	-0.95	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	I
G/H	0.9856	likely_pathogenic	0.981	pathogenic	-0.293	Destabilizing	1.0	D	0.78	deleterious	None	None	None	None	I
G/I	0.9745	likely_pathogenic	0.9722	pathogenic	-0.423	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	I
G/K	0.9872	likely_pathogenic	0.9854	pathogenic	-0.575	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	I
G/L	0.9742	likely_pathogenic	0.9712	pathogenic	-0.423	Destabilizing	1.0	D	0.804	deleterious	None	None	None	None	I
G/M	0.9799	likely_pathogenic	0.9777	pathogenic	-0.542	Destabilizing	1.0	D	0.789	deleterious	None	None	None	None	I
G/N	0.954	likely_pathogenic	0.9421	pathogenic	-0.286	Destabilizing	1.0	D	0.693	prob.neutral	None	None	None	None	I
G/P	0.9984	likely_pathogenic	0.9981	pathogenic	-0.315	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
G/Q	0.9738	likely_pathogenic	0.9671	pathogenic	-0.552	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
G/R	0.9676	likely_pathogenic	0.9615	pathogenic	-0.17	Destabilizing	1.0	D	0.802	deleterious	D	0.529330351	None	None	I
G/S	0.7221	likely_pathogenic	0.671	pathogenic	-0.436	Destabilizing	1.0	D	0.705	prob.neutral	None	None	None	None	I
G/T	0.9448	likely_pathogenic	0.9373	pathogenic	-0.528	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	I
G/V	0.9614	likely_pathogenic	0.9573	pathogenic	-0.315	Destabilizing	1.0	D	0.793	deleterious	D	0.552714525	None	None	I
G/W	0.9833	likely_pathogenic	0.98	pathogenic	-1.061	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	I
G/Y	0.9763	likely_pathogenic	0.9725	pathogenic	-0.733	Destabilizing	1.0	D	0.775	deleterious	None	None	None	None	I

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.