TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	16014	48265;48266;48267	chr2:178616849;178616848;178616847	chr2:179481576;179481575;179481574
N2AB	14373	43342;43343;43344	chr2:178616849;178616848;178616847	chr2:179481576;179481575;179481574
N2A	13446	40561;40562;40563	chr2:178616849;178616848;178616847	chr2:179481576;179481575;179481574
N2B	6949	21070;21071;21072	chr2:178616849;178616848;178616847	chr2:179481576;179481575;179481574
Novex-1	7074	21445;21446;21447	chr2:178616849;178616848;178616847	chr2:179481576;179481575;179481574
Novex-2	7141	21646;21647;21648	chr2:178616849;178616848;178616847	chr2:179481576;179481575;179481574
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: L
• RefSeq wild type transcript codon: TTG
• RefSeq wild type template codon: AAC
• Domain: Ig-109
• Domain position: 47
• Structural Position: 130
• Q(SASA): 0.4144
• 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
L/S	None	None	None	N	0.183	0.137	0.634102980643	gnomAD-4.0.0	7.20193E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	7.87501E-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
L/A	0.1167	likely_benign	0.126	benign	-1.265	Destabilizing	0.007	N	0.292	neutral	None	None	None	None	N
L/C	0.3246	likely_benign	0.3487	ambiguous	-0.882	Destabilizing	0.628	D	0.339	neutral	None	None	None	None	N
L/D	0.2757	likely_benign	0.3282	benign	-0.465	Destabilizing	0.038	N	0.363	neutral	None	None	None	None	N
L/E	0.1672	likely_benign	0.1922	benign	-0.487	Destabilizing	0.031	N	0.3	neutral	None	None	None	None	N
L/F	0.1059	likely_benign	0.1169	benign	-0.903	Destabilizing	0.171	N	0.271	neutral	N	0.490068566	None	None	N
L/G	0.214	likely_benign	0.2596	benign	-1.532	Destabilizing	0.016	N	0.305	neutral	None	None	None	None	N
L/H	0.1176	likely_benign	0.1329	benign	-0.605	Destabilizing	0.356	N	0.413	neutral	None	None	None	None	N
L/I	0.0935	likely_benign	0.0739	benign	-0.636	Destabilizing	None	N	0.14	neutral	None	None	None	None	N
L/K	0.1099	likely_benign	0.1289	benign	-0.795	Destabilizing	None	N	0.13	neutral	None	None	None	None	N
L/M	0.1056	likely_benign	0.1029	benign	-0.582	Destabilizing	0.171	N	0.284	neutral	N	0.508906	None	None	N
L/N	0.1189	likely_benign	0.1337	benign	-0.684	Destabilizing	None	N	0.256	neutral	None	None	None	None	N
L/P	0.3887	ambiguous	0.4268	ambiguous	-0.813	Destabilizing	0.136	N	0.457	neutral	None	None	None	None	N
L/Q	0.0889	likely_benign	0.1024	benign	-0.845	Destabilizing	0.072	N	0.457	neutral	None	None	None	None	N
L/R	0.1029	likely_benign	0.1185	benign	-0.197	Destabilizing	None	N	0.261	neutral	None	None	None	None	N
L/S	0.0941	likely_benign	0.1225	benign	-1.274	Destabilizing	None	N	0.183	neutral	N	0.443332652	None	None	N
L/T	0.0891	likely_benign	0.0959	benign	-1.174	Destabilizing	None	N	0.184	neutral	None	None	None	None	N
L/V	0.0788	likely_benign	0.0714	benign	-0.813	Destabilizing	0.002	N	0.189	neutral	N	0.496344309	None	None	N
L/W	0.236	likely_benign	0.2757	benign	-0.924	Destabilizing	0.828	D	0.395	neutral	N	0.509452657	None	None	N
L/Y	0.235	likely_benign	0.2554	benign	-0.704	Destabilizing	0.356	N	0.407	neutral	None	None	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.