TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22593	68002;68003;68004	chr2:178579253;178579252;178579251	chr2:179443980;179443979;179443978
N2AB	20952	63079;63080;63081	chr2:178579253;178579252;178579251	chr2:179443980;179443979;179443978
N2A	20025	60298;60299;60300	chr2:178579253;178579252;178579251	chr2:179443980;179443979;179443978
N2B	13528	40807;40808;40809	chr2:178579253;178579252;178579251	chr2:179443980;179443979;179443978
Novex-1	13653	41182;41183;41184	chr2:178579253;178579252;178579251	chr2:179443980;179443979;179443978
Novex-2	13720	41383;41384;41385	chr2:178579253;178579252;178579251	chr2:179443980;179443979;179443978
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-127
• Domain position: 34
• Structural Position: 70
• Q(SASA): 0.6239
• 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
T/S	None	None	0.349	N	0.401	0.052	0.17948927462	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
T/A	0.0653	likely_benign	0.0637	benign	-0.32	Destabilizing	0.003	N	0.202	neutral	N	0.46381289	None	None	N
T/C	0.3688	ambiguous	0.3565	ambiguous	-0.264	Destabilizing	0.989	D	0.496	neutral	None	None	None	None	N
T/D	0.2741	likely_benign	0.2584	benign	0.206	Stabilizing	0.961	D	0.413	neutral	None	None	None	None	N
T/E	0.1977	likely_benign	0.194	benign	0.123	Stabilizing	0.775	D	0.429	neutral	None	None	None	None	N
T/F	0.2346	likely_benign	0.2278	benign	-0.913	Destabilizing	0.923	D	0.588	neutral	None	None	None	None	N
T/G	0.1568	likely_benign	0.1489	benign	-0.423	Destabilizing	0.633	D	0.47	neutral	None	None	None	None	N
T/H	0.229	likely_benign	0.2153	benign	-0.774	Destabilizing	0.996	D	0.611	neutral	None	None	None	None	N
T/I	0.1462	likely_benign	0.1453	benign	-0.174	Destabilizing	0.309	N	0.408	neutral	N	0.488903335	None	None	N
T/K	0.1417	likely_benign	0.1375	benign	-0.299	Destabilizing	0.775	D	0.427	neutral	None	None	None	None	N
T/L	0.0928	likely_benign	0.0929	benign	-0.174	Destabilizing	0.415	N	0.413	neutral	None	None	None	None	N
T/M	0.0899	likely_benign	0.091	benign	-0.018	Destabilizing	0.961	D	0.488	neutral	None	None	None	None	N
T/N	0.1135	likely_benign	0.1054	benign	-0.106	Destabilizing	0.949	D	0.399	neutral	N	0.463255529	None	None	N
T/P	0.0927	likely_benign	0.0882	benign	-0.195	Destabilizing	0.949	D	0.434	neutral	N	0.456174841	None	None	N
T/Q	0.1641	likely_benign	0.1586	benign	-0.318	Destabilizing	0.961	D	0.465	neutral	None	None	None	None	N
T/R	0.1295	likely_benign	0.1274	benign	-0.082	Destabilizing	0.923	D	0.472	neutral	None	None	None	None	N
T/S	0.0887	likely_benign	0.0847	benign	-0.291	Destabilizing	0.349	N	0.401	neutral	N	0.451150237	None	None	N
T/V	0.1073	likely_benign	0.1095	benign	-0.195	Destabilizing	0.011	N	0.233	neutral	None	None	None	None	N
T/W	0.5333	ambiguous	0.5205	ambiguous	-0.948	Destabilizing	0.996	D	0.645	neutral	None	None	None	None	N
T/Y	0.2706	likely_benign	0.262	benign	-0.642	Destabilizing	0.961	D	0.597	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.