TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33598	101017;101018;101019	chr2:178535823;178535822;178535821	chr2:179400550;179400549;179400548
N2AB	31957	96094;96095;96096	chr2:178535823;178535822;178535821	chr2:179400550;179400549;179400548
N2A	31030	93313;93314;93315	chr2:178535823;178535822;178535821	chr2:179400550;179400549;179400548
N2B	24533	73822;73823;73824	chr2:178535823;178535822;178535821	chr2:179400550;179400549;179400548
Novex-1	24658	74197;74198;74199	chr2:178535823;178535822;178535821	chr2:179400550;179400549;179400548
Novex-2	24725	74398;74399;74400	chr2:178535823;178535822;178535821	chr2:179400550;179400549;179400548
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-159
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.3212
• 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
T/I	rs1272515576	0.009	0.093	N	0.653	0.14	0.0401082797425	gnomAD-2.1.1	4.27E-06	None	None	None	None	N	None	6.56E-05	0	None	0	0	None	0	None	0	0	0
T/I	rs1272515576	0.009	0.093	N	0.653	0.14	0.0401082797425	gnomAD-4.0.0	6.96121E-07	None	None	None	None	N	None	3.06542E-05	0	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
T/A	0.0798	likely_benign	0.0785	benign	-0.162	Destabilizing	0.001	N	0.409	neutral	N	0.419516955	None	None	N
T/C	0.379	ambiguous	0.3304	benign	-0.331	Destabilizing	0.802	D	0.647	neutral	None	None	None	None	N
T/D	0.2521	likely_benign	0.2166	benign	0.327	Stabilizing	None	N	0.406	neutral	None	None	None	None	N
T/E	0.2634	likely_benign	0.2264	benign	0.248	Stabilizing	None	N	0.361	neutral	None	None	None	None	N
T/F	0.2645	likely_benign	0.2161	benign	-0.785	Destabilizing	0.559	D	0.701	prob.neutral	None	None	None	None	N
T/G	0.1811	likely_benign	0.172	benign	-0.247	Destabilizing	0.024	N	0.513	neutral	None	None	None	None	N
T/H	0.1258	likely_benign	0.1246	benign	-0.454	Destabilizing	None	N	0.428	neutral	None	None	None	None	N
T/I	0.2052	likely_benign	0.162	benign	-0.064	Destabilizing	0.093	N	0.653	neutral	N	0.372683013	None	None	N
T/K	0.2709	likely_benign	0.2248	benign	-0.183	Destabilizing	0.014	N	0.534	neutral	None	None	None	None	N
T/L	0.1331	likely_benign	0.1124	benign	-0.064	Destabilizing	0.027	N	0.553	neutral	None	None	None	None	N
T/M	0.1072	likely_benign	0.1038	benign	-0.115	Destabilizing	0.591	D	0.663	neutral	None	None	None	None	N
T/N	0.0491	likely_benign	0.0535	benign	-0.044	Destabilizing	None	N	0.183	neutral	N	0.401624628	None	None	N
T/P	0.1388	likely_benign	0.1094	benign	-0.07	Destabilizing	0.021	N	0.596	neutral	N	0.438622791	None	None	N
T/Q	0.1891	likely_benign	0.1752	benign	-0.21	Destabilizing	0.03	N	0.581	neutral	None	None	None	None	N
T/R	0.2654	likely_benign	0.2211	benign	0.042	Stabilizing	0.151	N	0.581	neutral	None	None	None	None	N
T/S	0.0813	likely_benign	0.0821	benign	-0.236	Destabilizing	None	N	0.391	neutral	N	0.438449432	None	None	N
T/V	0.1637	likely_benign	0.1417	benign	-0.07	Destabilizing	0.088	N	0.498	neutral	None	None	None	None	N
T/W	0.6285	likely_pathogenic	0.5666	pathogenic	-0.864	Destabilizing	0.936	D	0.673	neutral	None	None	None	None	N
T/Y	0.219	likely_benign	0.1754	benign	-0.53	Destabilizing	0.151	N	0.671	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.