TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9063	27412;27413;27414	chr2:178712838;178712837;178712836	chr2:179577565;179577564;179577563
N2AB	8746	26461;26462;26463	chr2:178712838;178712837;178712836	chr2:179577565;179577564;179577563
N2A	7819	23680;23681;23682	chr2:178712838;178712837;178712836	chr2:179577565;179577564;179577563
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: D
• RefSeq wild type transcript codon: GAC
• RefSeq wild type template codon: CTG
• Domain: Ig-76
• Domain position: 45
• Structural Position: 102
• Q(SASA): 1.0329
• 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
D/G	rs2076862575	None	0.003	N	0.288	0.063	0.0551355673512	gnomAD-4.0.0	3.1827E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.71651E-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
D/A	0.0917	likely_benign	0.0847	benign	0.074	Stabilizing	None	N	0.15	neutral	N	0.477642539	None	None	N
D/C	0.344	ambiguous	0.3555	ambiguous	-0.243	Destabilizing	0.245	N	0.175	neutral	None	None	None	None	N
D/E	0.095	likely_benign	0.0822	benign	-0.32	Destabilizing	0.003	N	0.152	neutral	N	0.438180074	None	None	N
D/F	0.2644	likely_benign	0.2589	benign	-0.045	Destabilizing	0.022	N	0.286	neutral	None	None	None	None	N
D/G	0.0912	likely_benign	0.0915	benign	-0.011	Destabilizing	0.003	N	0.288	neutral	N	0.428597798	None	None	N
D/H	0.1106	likely_benign	0.118	benign	0.63	Stabilizing	None	N	0.246	neutral	N	0.465580106	None	None	N
D/I	0.1577	likely_benign	0.1476	benign	0.231	Stabilizing	0.044	N	0.321	neutral	None	None	None	None	N
D/K	0.1192	likely_benign	0.1171	benign	0.358	Stabilizing	None	N	0.171	neutral	None	None	None	None	N
D/L	0.1607	likely_benign	0.156	benign	0.231	Stabilizing	0.009	N	0.261	neutral	None	None	None	None	N
D/M	0.313	likely_benign	0.2873	benign	-0.034	Destabilizing	0.245	N	0.187	neutral	None	None	None	None	N
D/N	0.072	likely_benign	0.0708	benign	0.165	Stabilizing	None	N	0.138	neutral	N	0.469023056	None	None	N
D/P	0.2361	likely_benign	0.2081	benign	0.196	Stabilizing	None	N	0.189	neutral	None	None	None	None	N
D/Q	0.1295	likely_benign	0.1216	benign	0.161	Stabilizing	0.044	N	0.228	neutral	None	None	None	None	N
D/R	0.1251	likely_benign	0.1318	benign	0.589	Stabilizing	None	N	0.144	neutral	None	None	None	None	N
D/S	0.0757	likely_benign	0.0708	benign	0.056	Stabilizing	0.001	N	0.147	neutral	None	None	None	None	N
D/T	0.1297	likely_benign	0.1171	benign	0.134	Stabilizing	0.009	N	0.303	neutral	None	None	None	None	N
D/V	0.1057	likely_benign	0.1023	benign	0.196	Stabilizing	0.007	N	0.239	neutral	N	0.513064621	None	None	N
D/W	0.5262	ambiguous	0.549	ambiguous	-0.032	Destabilizing	0.55	D	0.179	neutral	None	None	None	None	N
D/Y	0.1002	likely_benign	0.1146	benign	0.17	Stabilizing	None	N	0.265	neutral	N	0.50436778	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.