TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4003	12232;12233;12234	chr2:178741226;178741225;178741224	chr2:179605953;179605952;179605951
N2AB	3686	11281;11282;11283	chr2:178741226;178741225;178741224	chr2:179605953;179605952;179605951
N2A	None	None	chr2:None	chr2:None
N2B	3640	11143;11144;11145	chr2:178741226;178741225;178741224	chr2:179605953;179605952;179605951
Novex-1	3765	11518;11519;11520	chr2:178741226;178741225;178741224	chr2:179605953;179605952;179605951
Novex-2	3832	11719;11720;11721	chr2:178741226;178741225;178741224	chr2:179605953;179605952;179605951
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: R
• RefSeq wild type transcript codon: AGG
• RefSeq wild type template codon: TCC
• Domain: Ig-28
• Domain position: 66
• Structural Position: 146
• Q(SASA): 0.5997
• Predicted PPI site: I

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
R/K	None	None	None	N	0.107	0.098	None	gnomAD-4.0.0	1.59205E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85796E-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
R/A	0.1672	likely_benign	0.1317	benign	-0.066	Destabilizing	0.004	N	0.205	neutral	None	None	None	None	I
R/C	0.1786	likely_benign	0.1531	benign	-0.233	Destabilizing	0.245	N	0.217	neutral	None	None	None	None	I
R/D	0.3634	ambiguous	0.3007	benign	-0.094	Destabilizing	0.009	N	0.198	neutral	None	None	None	None	I
R/E	0.1609	likely_benign	0.1319	benign	-0.035	Destabilizing	None	N	0.096	neutral	None	None	None	None	I
R/F	0.3793	ambiguous	0.31	benign	-0.287	Destabilizing	0.138	N	0.345	neutral	None	None	None	None	I
R/G	0.1063	likely_benign	0.0902	benign	-0.256	Destabilizing	0.007	N	0.203	neutral	N	0.45627133	None	None	I
R/H	0.1245	likely_benign	0.1082	benign	-0.668	Destabilizing	0.245	N	0.201	neutral	None	None	None	None	I
R/I	0.1172	likely_benign	0.1052	benign	0.397	Stabilizing	0.003	N	0.238	neutral	None	None	None	None	I
R/K	0.0738	likely_benign	0.0691	benign	-0.147	Destabilizing	None	N	0.107	neutral	N	0.424754471	None	None	I
R/L	0.1469	likely_benign	0.1227	benign	0.397	Stabilizing	None	N	0.126	neutral	None	None	None	None	I
R/M	0.1322	likely_benign	0.111	benign	0.001	Stabilizing	0.108	N	0.245	neutral	N	0.453485314	None	None	I
R/N	0.2967	likely_benign	0.24	benign	0.09	Stabilizing	0.009	N	0.19	neutral	None	None	None	None	I
R/P	0.2985	likely_benign	0.2225	benign	0.263	Stabilizing	0.085	N	0.372	neutral	None	None	None	None	I
R/Q	0.0902	likely_benign	0.0783	benign	-0.029	Destabilizing	None	N	0.102	neutral	None	None	None	None	I
R/S	0.2188	likely_benign	0.1688	benign	-0.286	Destabilizing	None	N	0.143	neutral	N	0.441498178	None	None	I
R/T	0.1132	likely_benign	0.0925	benign	-0.096	Destabilizing	0.007	N	0.227	neutral	N	0.453246606	None	None	I
R/V	0.1815	likely_benign	0.1466	benign	0.263	Stabilizing	None	N	0.175	neutral	None	None	None	None	I
R/W	0.1408	likely_benign	0.1208	benign	-0.321	Destabilizing	0.737	D	0.221	neutral	N	0.482501325	None	None	I
R/Y	0.283	likely_benign	0.2365	benign	0.08	Stabilizing	0.085	N	0.35	neutral	None	None	None	None	I

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.