TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7930	24013;24014;24015	chr2:178719704;178719703;178719702	chr2:179584431;179584430;179584429
N2AB	7613	23062;23063;23064	chr2:178719704;178719703;178719702	chr2:179584431;179584430;179584429
N2A	6686	20281;20282;20283	chr2:178719704;178719703;178719702	chr2:179584431;179584430;179584429
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: TCT
• RefSeq wild type template codon: AGA
• Domain: Ig-64
• Domain position: 42
• Structural Position: 59
• Q(SASA): 0.5008
• 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	None	None	0.029	N	0.454	0.267	0.508163421412	gnomAD-4.0.0	1.59141E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43283E-05	0
S/P	rs2078046090	None	0.055	N	0.366	0.218	0.115124310173	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	2.41E-05	0	0	0	0	None	0	0	0	0	0
S/P	rs2078046090	None	0.055	N	0.366	0.218	0.115124310173	gnomAD-4.0.0	6.5735E-06	None	None	None	None	N	None	2.41406E-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
S/A	0.0599	likely_benign	0.0658	benign	-0.245	Destabilizing	None	N	0.12	neutral	N	0.472587088	None	None	N
S/C	0.0944	likely_benign	0.0995	benign	-0.264	Destabilizing	0.295	N	0.365	neutral	D	0.52453832	None	None	N
S/D	0.203	likely_benign	0.225	benign	-0.025	Destabilizing	0.031	N	0.221	neutral	None	None	None	None	N
S/E	0.2361	likely_benign	0.2756	benign	-0.094	Destabilizing	0.016	N	0.254	neutral	None	None	None	None	N
S/F	0.1064	likely_benign	0.1236	benign	-0.791	Destabilizing	0.029	N	0.454	neutral	N	0.498040274	None	None	N
S/G	0.0806	likely_benign	0.0794	benign	-0.38	Destabilizing	0.016	N	0.229	neutral	None	None	None	None	N
S/H	0.1542	likely_benign	0.1678	benign	-0.783	Destabilizing	0.214	N	0.377	neutral	None	None	None	None	N
S/I	0.0901	likely_benign	0.097	benign	-0.015	Destabilizing	0.072	N	0.463	neutral	None	None	None	None	N
S/K	0.2318	likely_benign	0.2642	benign	-0.507	Destabilizing	None	N	0.159	neutral	None	None	None	None	N
S/L	0.0669	likely_benign	0.0717	benign	-0.015	Destabilizing	0.016	N	0.362	neutral	None	None	None	None	N
S/M	0.1332	likely_benign	0.1496	benign	-0.029	Destabilizing	0.356	N	0.379	neutral	None	None	None	None	N
S/N	0.092	likely_benign	0.0932	benign	-0.244	Destabilizing	0.031	N	0.238	neutral	None	None	None	None	N
S/P	0.0934	likely_benign	0.0936	benign	-0.061	Destabilizing	0.055	N	0.366	neutral	N	0.462487525	None	None	N
S/Q	0.2149	likely_benign	0.244	benign	-0.414	Destabilizing	0.003	N	0.177	neutral	None	None	None	None	N
S/R	0.185	likely_benign	0.2012	benign	-0.288	Destabilizing	None	N	0.173	neutral	None	None	None	None	N
S/T	0.0629	likely_benign	0.067	benign	-0.268	Destabilizing	0.012	N	0.24	neutral	N	0.426430724	None	None	N
S/V	0.0985	likely_benign	0.111	benign	-0.061	Destabilizing	0.016	N	0.388	neutral	None	None	None	None	N
S/W	0.1735	likely_benign	0.1914	benign	-0.883	Destabilizing	0.676	D	0.424	neutral	None	None	None	None	N
S/Y	0.1061	likely_benign	0.1213	benign	-0.572	Destabilizing	0.001	N	0.306	neutral	N	0.521997188	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.