TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18387	55384;55385;55386	chr2:178602112;178602111;178602110	chr2:179466839;179466838;179466837
N2AB	16746	50461;50462;50463	chr2:178602112;178602111;178602110	chr2:179466839;179466838;179466837
N2A	15819	47680;47681;47682	chr2:178602112;178602111;178602110	chr2:179466839;179466838;179466837
N2B	9322	28189;28190;28191	chr2:178602112;178602111;178602110	chr2:179466839;179466838;179466837
Novex-1	9447	28564;28565;28566	chr2:178602112;178602111;178602110	chr2:179466839;179466838;179466837
Novex-2	9514	28765;28766;28767	chr2:178602112;178602111;178602110	chr2:179466839;179466838;179466837
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: C
• RefSeq wild type transcript codon: TGT
• RefSeq wild type template codon: ACA
• Domain: Ig-115
• Domain position: 6
• Structural Position: 11
• Q(SASA): 0.2833
• 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
C/S	None	None	None	N	0.331	0.15	0.266843984389	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	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
C/A	0.2127	likely_benign	0.1957	benign	-1.364	Destabilizing	0.002	N	0.391	neutral	None	None	None	None	I
C/D	0.5004	ambiguous	0.4651	ambiguous	0.029	Stabilizing	0.022	N	0.535	neutral	None	None	None	None	I
C/E	0.5568	ambiguous	0.5298	ambiguous	0.091	Stabilizing	0.022	N	0.535	neutral	None	None	None	None	I
C/F	0.1011	likely_benign	0.0962	benign	-0.783	Destabilizing	None	N	0.457	neutral	N	0.387674761	None	None	I
C/G	0.1323	likely_benign	0.1272	benign	-1.637	Destabilizing	0.007	N	0.461	neutral	N	0.342883834	None	None	I
C/H	0.2952	likely_benign	0.2736	benign	-1.574	Destabilizing	0.245	N	0.533	neutral	None	None	None	None	I
C/I	0.2096	likely_benign	0.1934	benign	-0.688	Destabilizing	0.004	N	0.412	neutral	None	None	None	None	I
C/K	0.6026	likely_pathogenic	0.6024	pathogenic	-0.739	Destabilizing	0.009	N	0.496	neutral	None	None	None	None	I
C/L	0.2014	likely_benign	0.1865	benign	-0.688	Destabilizing	None	N	0.323	neutral	None	None	None	None	I
C/M	0.2835	likely_benign	0.256	benign	0.133	Stabilizing	0.138	N	0.549	neutral	None	None	None	None	I
C/N	0.2253	likely_benign	0.1904	benign	-0.566	Destabilizing	0.022	N	0.549	neutral	None	None	None	None	I
C/P	0.8879	likely_pathogenic	0.8612	pathogenic	-0.887	Destabilizing	0.044	N	0.573	neutral	None	None	None	None	I
C/Q	0.366	ambiguous	0.3405	ambiguous	-0.538	Destabilizing	0.044	N	0.573	neutral	None	None	None	None	I
C/R	0.3355	likely_benign	0.3633	ambiguous	-0.512	Destabilizing	0.033	N	0.549	neutral	N	0.395139451	None	None	I
C/S	0.132	likely_benign	0.1194	benign	-1.121	Destabilizing	None	N	0.331	neutral	N	0.362296314	None	None	I
C/T	0.1747	likely_benign	0.163	benign	-0.89	Destabilizing	0.009	N	0.419	neutral	None	None	None	None	I
C/V	0.1826	likely_benign	0.172	benign	-0.887	Destabilizing	0.004	N	0.394	neutral	None	None	None	None	I
C/W	0.3135	likely_benign	0.3121	benign	-0.745	Destabilizing	0.427	N	0.523	neutral	N	0.425635717	None	None	I
C/Y	0.1391	likely_benign	0.1309	benign	-0.735	Destabilizing	0.017	N	0.535	neutral	N	0.406703239	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.