TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26301	79126;79127;79128	chr2:178567231;178567230;178567229	chr2:179431958;179431957;179431956
N2AB	24660	74203;74204;74205	chr2:178567231;178567230;178567229	chr2:179431958;179431957;179431956
N2A	23733	71422;71423;71424	chr2:178567231;178567230;178567229	chr2:179431958;179431957;179431956
N2B	17236	51931;51932;51933	chr2:178567231;178567230;178567229	chr2:179431958;179431957;179431956
Novex-1	17361	52306;52307;52308	chr2:178567231;178567230;178567229	chr2:179431958;179431957;179431956
Novex-2	17428	52507;52508;52509	chr2:178567231;178567230;178567229	chr2:179431958;179431957;179431956
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Fn3-79
• Domain position: 16
• Structural Position: 17
• Q(SASA): 0.1557
• 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
S/A	None	None	None	N	0.079	0.124	0.0401082797425	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
S/A	0.0454	likely_benign	0.0461	benign	-0.272	Destabilizing	None	N	0.079	neutral	N	0.423475272	None	None	N
S/C	0.0919	likely_benign	0.0902	benign	-0.638	Destabilizing	None	N	0.215	neutral	N	0.496784556	None	None	N
S/D	0.5697	likely_pathogenic	0.5924	pathogenic	-1.747	Destabilizing	0.016	N	0.381	neutral	None	None	None	None	N
S/E	0.5247	ambiguous	0.5623	ambiguous	-1.741	Destabilizing	None	N	0.103	neutral	None	None	None	None	N
S/F	0.2804	likely_benign	0.2812	benign	-0.678	Destabilizing	0.295	N	0.623	neutral	N	0.503367921	None	None	N
S/G	0.0856	likely_benign	0.0827	benign	-0.481	Destabilizing	0.016	N	0.347	neutral	None	None	None	None	N
S/H	0.4549	ambiguous	0.4509	ambiguous	-1.07	Destabilizing	0.356	N	0.591	neutral	None	None	None	None	N
S/I	0.242	likely_benign	0.2445	benign	0.171	Stabilizing	0.072	N	0.615	neutral	None	None	None	None	N
S/K	0.6151	likely_pathogenic	0.6263	pathogenic	-0.729	Destabilizing	0.031	N	0.373	neutral	None	None	None	None	N
S/L	0.1225	likely_benign	0.1219	benign	0.171	Stabilizing	0.016	N	0.537	neutral	None	None	None	None	N
S/M	0.1866	likely_benign	0.1904	benign	0.451	Stabilizing	0.356	N	0.581	neutral	None	None	None	None	N
S/N	0.215	likely_benign	0.2025	benign	-1.052	Destabilizing	0.001	N	0.12	neutral	None	None	None	None	N
S/P	0.3304	likely_benign	0.3185	benign	0.055	Stabilizing	0.055	N	0.595	neutral	N	0.502378773	None	None	N
S/Q	0.4343	ambiguous	0.4529	ambiguous	-1.314	Destabilizing	0.072	N	0.424	neutral	None	None	None	None	N
S/R	0.5429	ambiguous	0.5485	ambiguous	-0.494	Destabilizing	0.072	N	0.565	neutral	None	None	None	None	N
S/T	0.1138	likely_benign	0.1053	benign	-0.784	Destabilizing	0.012	N	0.372	neutral	D	0.526525069	None	None	N
S/V	0.1721	likely_benign	0.1753	benign	0.055	Stabilizing	0.016	N	0.521	neutral	None	None	None	None	N
S/W	0.4397	ambiguous	0.4529	ambiguous	-0.824	Destabilizing	0.864	D	0.611	neutral	None	None	None	None	N
S/Y	0.2759	likely_benign	0.2796	benign	-0.431	Destabilizing	0.295	N	0.621	neutral	N	0.514217248	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.