TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18338	55237;55238;55239	chr2:178602390;178602389;178602388	chr2:179467117;179467116;179467115
N2AB	16697	50314;50315;50316	chr2:178602390;178602389;178602388	chr2:179467117;179467116;179467115
N2A	15770	47533;47534;47535	chr2:178602390;178602389;178602388	chr2:179467117;179467116;179467115
N2B	9273	28042;28043;28044	chr2:178602390;178602389;178602388	chr2:179467117;179467116;179467115
Novex-1	9398	28417;28418;28419	chr2:178602390;178602389;178602388	chr2:179467117;179467116;179467115
Novex-2	9465	28618;28619;28620	chr2:178602390;178602389;178602388	chr2:179467117;179467116;179467115
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Fn3-21
• Domain position: 67
• Structural Position: 96
• Q(SASA): 0.9174
• 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	0.801	N	0.346	0.111	0.162503812791	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	0.1482	likely_benign	0.1428	benign	-0.067	Destabilizing	0.525	D	0.347	neutral	None	None	None	None	N
N/C	0.255	likely_benign	0.2606	benign	0.09	Stabilizing	0.998	D	0.431	neutral	None	None	None	None	N
N/D	0.0923	likely_benign	0.0891	benign	0.124	Stabilizing	0.005	N	0.157	neutral	N	0.43600656	None	None	N
N/E	0.2604	likely_benign	0.2556	benign	0.065	Stabilizing	0.525	D	0.339	neutral	None	None	None	None	N
N/F	0.421	ambiguous	0.4388	ambiguous	-0.7	Destabilizing	0.991	D	0.447	neutral	None	None	None	None	N
N/G	0.1629	likely_benign	0.1546	benign	-0.154	Destabilizing	0.688	D	0.371	neutral	None	None	None	None	N
N/H	0.1019	likely_benign	0.1052	benign	-0.152	Destabilizing	0.989	D	0.412	neutral	N	0.511315182	None	None	N
N/I	0.251	likely_benign	0.2628	benign	0.059	Stabilizing	0.966	D	0.457	neutral	N	0.486930782	None	None	N
N/K	0.2301	likely_benign	0.2239	benign	0.133	Stabilizing	0.801	D	0.346	neutral	N	0.476413175	None	None	N
N/L	0.219	likely_benign	0.225	benign	0.059	Stabilizing	0.915	D	0.456	neutral	None	None	None	None	N
N/M	0.3038	likely_benign	0.3214	benign	0.059	Stabilizing	0.998	D	0.406	neutral	None	None	None	None	N
N/P	0.623	likely_pathogenic	0.5592	ambiguous	0.039	Stabilizing	0.974	D	0.423	neutral	None	None	None	None	N
N/Q	0.2385	likely_benign	0.2406	benign	-0.276	Destabilizing	0.974	D	0.378	neutral	None	None	None	None	N
N/R	0.2862	likely_benign	0.3014	benign	0.198	Stabilizing	0.974	D	0.377	neutral	None	None	None	None	N
N/S	0.0734	likely_benign	0.0741	benign	-0.064	Destabilizing	0.062	N	0.156	neutral	N	0.483243146	None	None	N
N/T	0.1198	likely_benign	0.1215	benign	-0.008	Destabilizing	0.669	D	0.348	neutral	N	0.46106462	None	None	N
N/V	0.2174	likely_benign	0.2191	benign	0.039	Stabilizing	0.974	D	0.458	neutral	None	None	None	None	N
N/W	0.7201	likely_pathogenic	0.7322	pathogenic	-0.851	Destabilizing	0.998	D	0.585	neutral	None	None	None	None	N
N/Y	0.1427	likely_benign	0.1564	benign	-0.508	Destabilizing	0.989	D	0.418	neutral	N	0.498033598	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.