TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3832	11719;11720;11721	chr2:178741739;178741738;178741737	chr2:179606466;179606465;179606464
N2AB	3515	10768;10769;10770	chr2:178741739;178741738;178741737	chr2:179606466;179606465;179606464
N2A	None	None	chr2:None	chr2:None
N2B	3469	10630;10631;10632	chr2:178741739;178741738;178741737	chr2:179606466;179606465;179606464
Novex-1	3594	11005;11006;11007	chr2:178741739;178741738;178741737	chr2:179606466;179606465;179606464
Novex-2	3661	11206;11207;11208	chr2:178741739;178741738;178741737	chr2:179606466;179606465;179606464
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: AGC
• RefSeq wild type template codon: TCG
• Domain: Ig-27
• Domain position: 13
• Structural Position: 18
• Q(SASA): 0.4974
• 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/I	None	None	0.001	N	0.247	0.131	None	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	0.0893	likely_benign	0.0945	benign	-0.504	Destabilizing	0.036	N	0.236	neutral	None	None	None	None	N
S/C	0.1021	likely_benign	0.1002	benign	-0.259	Destabilizing	0.001	N	0.303	neutral	N	0.516659286	None	None	N
S/D	0.2193	likely_benign	0.2389	benign	-0.054	Destabilizing	0.08	N	0.249	neutral	None	None	None	None	N
S/E	0.3403	ambiguous	0.3763	ambiguous	-0.138	Destabilizing	0.148	N	0.249	neutral	None	None	None	None	N
S/F	0.1884	likely_benign	0.1791	benign	-1.039	Destabilizing	0.001	N	0.259	neutral	None	None	None	None	N
S/G	0.0924	likely_benign	0.09	benign	-0.641	Destabilizing	0.061	N	0.263	neutral	N	0.493146758	None	None	N
S/H	0.2149	likely_benign	0.2283	benign	-1.203	Destabilizing	0.596	D	0.391	neutral	None	None	None	None	N
S/I	0.1177	likely_benign	0.12	benign	-0.268	Destabilizing	0.001	N	0.247	neutral	N	0.473980609	None	None	N
S/K	0.3947	ambiguous	0.4245	ambiguous	-0.536	Destabilizing	0.08	N	0.265	neutral	None	None	None	None	N
S/L	0.1008	likely_benign	0.1004	benign	-0.268	Destabilizing	0.013	N	0.348	neutral	None	None	None	None	N
S/M	0.2069	likely_benign	0.2059	benign	0.149	Stabilizing	0.016	N	0.295	neutral	None	None	None	None	N
S/N	0.0974	likely_benign	0.0948	benign	-0.277	Destabilizing	None	N	0.155	neutral	N	0.485299976	None	None	N
S/P	0.1879	likely_benign	0.1872	benign	-0.317	Destabilizing	0.46	N	0.445	neutral	None	None	None	None	N
S/Q	0.3287	likely_benign	0.3607	ambiguous	-0.574	Destabilizing	0.296	N	0.271	neutral	None	None	None	None	N
S/R	0.2664	likely_benign	0.2883	benign	-0.307	Destabilizing	None	N	0.197	neutral	N	0.444161385	None	None	N
S/T	0.0832	likely_benign	0.084	benign	-0.38	Destabilizing	0.002	N	0.156	neutral	N	0.440276363	None	None	N
S/V	0.1568	likely_benign	0.1616	benign	-0.317	Destabilizing	0.013	N	0.422	neutral	None	None	None	None	N
S/W	0.3258	likely_benign	0.3127	benign	-1.007	Destabilizing	0.001	N	0.385	neutral	None	None	None	None	N
S/Y	0.1679	likely_benign	0.1582	benign	-0.743	Destabilizing	0.174	N	0.488	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.