TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8797	26614;26615;26616	chr2:178714385;178714384;178714383	chr2:179579112;179579111;179579110
N2AB	8480	25663;25664;25665	chr2:178714385;178714384;178714383	chr2:179579112;179579111;179579110
N2A	7553	22882;22883;22884	chr2:178714385;178714384;178714383	chr2:179579112;179579111;179579110
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: TCA
• RefSeq wild type template codon: AGT
• Domain: Ig-73
• Domain position: 62
• Structural Position: 141
• Q(SASA): 0.2623
• 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/A	None	None	None	N	0.085	0.115	0.119812018005	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-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	0.0686	likely_benign	0.0781	benign	-0.594	Destabilizing	None	N	0.085	neutral	N	0.458369784	None	None	N
S/C	0.1052	likely_benign	0.1276	benign	-0.452	Destabilizing	0.103	N	0.387	neutral	None	None	None	None	N
S/D	0.1901	likely_benign	0.2051	benign	-0.318	Destabilizing	0.003	N	0.273	neutral	None	None	None	None	N
S/E	0.239	likely_benign	0.2666	benign	-0.372	Destabilizing	None	N	0.115	neutral	None	None	None	None	N
S/F	0.125	likely_benign	0.1581	benign	-0.963	Destabilizing	None	N	0.146	neutral	None	None	None	None	N
S/G	0.0671	likely_benign	0.0726	benign	-0.772	Destabilizing	None	N	0.085	neutral	None	None	None	None	N
S/H	0.1638	likely_benign	0.1719	benign	-1.279	Destabilizing	0.566	D	0.389	neutral	None	None	None	None	N
S/I	0.1122	likely_benign	0.1326	benign	-0.237	Destabilizing	0.012	N	0.365	neutral	None	None	None	None	N
S/K	0.2433	likely_benign	0.2572	benign	-0.655	Destabilizing	0.024	N	0.272	neutral	None	None	None	None	N
S/L	0.0762	likely_benign	0.0884	benign	-0.237	Destabilizing	None	N	0.147	neutral	N	0.473435237	None	None	N
S/M	0.1667	likely_benign	0.1936	benign	0.153	Stabilizing	0.175	N	0.385	neutral	None	None	None	None	N
S/N	0.0889	likely_benign	0.0935	benign	-0.491	Destabilizing	0.002	N	0.303	neutral	None	None	None	None	N
S/P	0.0929	likely_benign	0.0952	benign	-0.325	Destabilizing	0.012	N	0.419	neutral	N	0.484825667	None	None	N
S/Q	0.224	likely_benign	0.2433	benign	-0.795	Destabilizing	0.057	N	0.335	neutral	None	None	None	None	N
S/R	0.1803	likely_benign	0.1959	benign	-0.412	Destabilizing	0.057	N	0.421	neutral	None	None	None	None	N
S/T	0.0793	likely_benign	0.0867	benign	-0.57	Destabilizing	None	N	0.11	neutral	N	0.467258627	None	None	N
S/V	0.1261	likely_benign	0.1548	benign	-0.325	Destabilizing	None	N	0.149	neutral	None	None	None	None	N
S/W	0.1823	likely_benign	0.2274	benign	-0.901	Destabilizing	0.831	D	0.461	neutral	None	None	None	None	N
S/Y	0.1182	likely_benign	0.1358	benign	-0.648	Destabilizing	0.029	N	0.461	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.