TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15093	45502;45503;45504	chr2:178621547;178621546;178621545	chr2:179486274;179486273;179486272
N2AB	13452	40579;40580;40581	chr2:178621547;178621546;178621545	chr2:179486274;179486273;179486272
N2A	12525	37798;37799;37800	chr2:178621547;178621546;178621545	chr2:179486274;179486273;179486272
N2B	6028	18307;18308;18309	chr2:178621547;178621546;178621545	chr2:179486274;179486273;179486272
Novex-1	6153	18682;18683;18684	chr2:178621547;178621546;178621545	chr2:179486274;179486273;179486272
Novex-2	6220	18883;18884;18885	chr2:178621547;178621546;178621545	chr2:179486274;179486273;179486272
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAC
• RefSeq wild type template codon: GTG
• Domain: Ig-102
• Domain position: 63
• Structural Position: 145
• Q(SASA): 0.4276
• 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
H/P	rs1275555058	None	0.065	D	0.471	0.278	0.342865806769	gnomAD-4.0.0	1.59382E-06	None	None	None	None	N	None	0	0	None	0	2.78427E-05	None	0	0	0	0	0
H/Y	None	None	0.065	N	0.353	0.111	0.240491677333	gnomAD-4.0.0	6.84689E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99931E-07	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
H/A	0.1931	likely_benign	0.1791	benign	-0.316	Destabilizing	0.004	N	0.247	neutral	None	None	None	None	N
H/C	0.1437	likely_benign	0.1539	benign	0.486	Stabilizing	0.497	N	0.429	neutral	None	None	None	None	N
H/D	0.1776	likely_benign	0.1773	benign	-0.172	Destabilizing	0.007	N	0.381	neutral	N	0.470006298	None	None	N
H/E	0.2158	likely_benign	0.1993	benign	-0.117	Destabilizing	0.002	N	0.249	neutral	None	None	None	None	N
H/F	0.2518	likely_benign	0.2359	benign	0.433	Stabilizing	0.22	N	0.46	neutral	None	None	None	None	N
H/G	0.2016	likely_benign	0.1996	benign	-0.646	Destabilizing	0.004	N	0.3	neutral	None	None	None	None	N
H/I	0.2534	likely_benign	0.2303	benign	0.565	Stabilizing	0.085	N	0.537	neutral	None	None	None	None	N
H/K	0.1352	likely_benign	0.1366	benign	-0.256	Destabilizing	None	N	0.115	neutral	None	None	None	None	N
H/L	0.0902	likely_benign	0.08	benign	0.565	Stabilizing	0.014	N	0.377	neutral	N	0.487572841	None	None	N
H/M	0.3735	ambiguous	0.3396	benign	0.505	Stabilizing	0.245	N	0.439	neutral	None	None	None	None	N
H/N	0.0821	likely_benign	0.0821	benign	-0.107	Destabilizing	None	N	0.115	neutral	N	0.479456114	None	None	N
H/P	0.3037	likely_benign	0.3145	benign	0.295	Stabilizing	0.065	N	0.471	neutral	D	0.556594979	None	None	N
H/Q	0.1045	likely_benign	0.0957	benign	0.058	Stabilizing	None	N	0.098	neutral	N	0.422500274	None	None	N
H/R	0.0667	likely_benign	0.0671	benign	-0.799	Destabilizing	None	N	0.103	neutral	N	0.378063553	None	None	N
H/S	0.1433	likely_benign	0.1409	benign	-0.097	Destabilizing	0.004	N	0.261	neutral	None	None	None	None	N
H/T	0.1904	likely_benign	0.1775	benign	0.053	Stabilizing	0.018	N	0.353	neutral	None	None	None	None	N
H/V	0.1884	likely_benign	0.1756	benign	0.295	Stabilizing	0.018	N	0.427	neutral	None	None	None	None	N
H/W	0.3665	ambiguous	0.3549	ambiguous	0.52	Stabilizing	0.788	D	0.414	neutral	None	None	None	None	N
H/Y	0.1052	likely_benign	0.1027	benign	0.791	Stabilizing	0.065	N	0.353	neutral	N	0.500534459	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.