TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8729	26410;26411;26412	chr2:178715001;178715000;178714999	chr2:179579728;179579727;179579726
N2AB	8412	25459;25460;25461	chr2:178715001;178715000;178714999	chr2:179579728;179579727;179579726
N2A	7485	22678;22679;22680	chr2:178715001;178715000;178714999	chr2:179579728;179579727;179579726
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCC
• RefSeq wild type template codon: AGG
• Domain: Ig-72
• Domain position: 87
• Structural Position: 173
• Q(SASA): 0.2896
• 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/F	rs1429923693	-0.737	0.062	N	0.408	0.141	0.316198179892	gnomAD-2.1.1	4.07E-06	None	None	None	None	N	None	0	0	None	0	0	None	3.36E-05	None	0	0	0
S/F	rs1429923693	-0.737	0.062	N	0.408	0.141	0.316198179892	gnomAD-4.0.0	1.60083E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.4497E-05	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	0.0709	likely_benign	0.0704	benign	-0.745	Destabilizing	0.001	N	0.201	neutral	N	0.456035116	None	None	N
S/C	0.0947	likely_benign	0.1011	benign	-0.503	Destabilizing	0.985	D	0.526	neutral	N	0.468453998	None	None	N
S/D	0.2277	likely_benign	0.2596	benign	-0.04	Destabilizing	0.762	D	0.537	neutral	None	None	None	None	N
S/E	0.2872	likely_benign	0.3109	benign	0.021	Stabilizing	0.818	D	0.523	neutral	None	None	None	None	N
S/F	0.0848	likely_benign	0.0885	benign	-0.773	Destabilizing	0.062	N	0.408	neutral	N	0.485837948	None	None	N
S/G	0.0933	likely_benign	0.0976	benign	-1.055	Destabilizing	0.749	D	0.533	neutral	None	None	None	None	N
S/H	0.1632	likely_benign	0.1618	benign	-1.446	Destabilizing	0.999	D	0.525	neutral	None	None	None	None	N
S/I	0.0928	likely_benign	0.0925	benign	-0.013	Destabilizing	0.036	N	0.419	neutral	None	None	None	None	N
S/K	0.3002	likely_benign	0.316	benign	-0.381	Destabilizing	0.923	D	0.525	neutral	None	None	None	None	N
S/L	0.0733	likely_benign	0.0718	benign	-0.013	Destabilizing	0.016	N	0.388	neutral	None	None	None	None	N
S/M	0.1403	likely_benign	0.1334	benign	0.055	Stabilizing	0.977	D	0.542	neutral	None	None	None	None	N
S/N	0.0861	likely_benign	0.0905	benign	-0.512	Destabilizing	0.273	N	0.545	neutral	None	None	None	None	N
S/P	0.2233	likely_benign	0.2301	benign	-0.221	Destabilizing	0.945	D	0.559	neutral	N	0.456679619	None	None	N
S/Q	0.2635	likely_benign	0.2649	benign	-0.524	Destabilizing	0.988	D	0.574	neutral	None	None	None	None	N
S/R	0.2349	likely_benign	0.2553	benign	-0.487	Destabilizing	0.977	D	0.561	neutral	None	None	None	None	N
S/T	0.067	likely_benign	0.0661	benign	-0.499	Destabilizing	0.004	N	0.344	neutral	N	0.411108115	None	None	N
S/V	0.1036	likely_benign	0.104	benign	-0.221	Destabilizing	0.242	N	0.467	neutral	None	None	None	None	N
S/W	0.1668	likely_benign	0.1745	benign	-0.77	Destabilizing	0.999	D	0.59	neutral	None	None	None	None	N
S/Y	0.0828	likely_benign	0.0877	benign	-0.454	Destabilizing	0.941	D	0.561	neutral	N	0.495804225	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.