TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6152	18679;18680;18681	chr2:178729799;178729798;178729797	chr2:179594526;179594525;179594524
N2AB	5835	17728;17729;17730	chr2:178729799;178729798;178729797	chr2:179594526;179594525;179594524
N2A	4908	14947;14948;14949	chr2:178729799;178729798;178729797	chr2:179594526;179594525;179594524
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: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Ig-45
• Domain position: 48
• Structural Position: 121
• Q(SASA): 0.1999
• 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/L	rs2080071193	None	0.062	N	0.573	0.251	0.482209950775	gnomAD-4.0.0	3.18298E-06	None	None	None	None	N	None	0	0	None	0	5.54877E-05	None	0	0	0	0	0
H/R	None	None	0.117	N	0.553	0.28	0.270889551736	gnomAD-4.0.0	1.59149E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43271E-05	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	0.171	likely_benign	0.1684	benign	-1.548	Destabilizing	0.149	N	0.528	neutral	None	None	None	None	N
H/C	0.1374	likely_benign	0.1336	benign	-0.738	Destabilizing	0.935	D	0.605	neutral	None	None	None	None	N
H/D	0.1222	likely_benign	0.1127	benign	-1.258	Destabilizing	0.211	N	0.561	neutral	N	0.501024484	None	None	N
H/E	0.1654	likely_benign	0.16	benign	-1.071	Destabilizing	0.262	N	0.528	neutral	None	None	None	None	N
H/F	0.1725	likely_benign	0.1808	benign	0.262	Stabilizing	0.081	N	0.521	neutral	None	None	None	None	N
H/G	0.1797	likely_benign	0.1717	benign	-1.986	Destabilizing	0.262	N	0.542	neutral	None	None	None	None	N
H/I	0.2174	likely_benign	0.222	benign	-0.267	Destabilizing	0.38	N	0.617	neutral	None	None	None	None	N
H/K	0.1814	likely_benign	0.1742	benign	-0.883	Destabilizing	0.149	N	0.537	neutral	None	None	None	None	N
H/L	0.106	likely_benign	0.107	benign	-0.267	Destabilizing	0.062	N	0.573	neutral	N	0.492055497	None	None	N
H/M	0.3374	likely_benign	0.3348	benign	-0.515	Destabilizing	0.555	D	0.567	neutral	None	None	None	None	N
H/N	0.0754	likely_benign	0.0738	benign	-1.515	Destabilizing	0.211	N	0.565	neutral	D	0.530480599	None	None	N
H/P	0.1357	likely_benign	0.1229	benign	-0.681	Destabilizing	0.741	D	0.589	neutral	N	0.504795507	None	None	N
H/Q	0.1155	likely_benign	0.1158	benign	-1.161	Destabilizing	0.484	N	0.573	neutral	N	0.514588427	None	None	N
H/R	0.0927	likely_benign	0.0945	benign	-1.178	Destabilizing	0.117	N	0.553	neutral	N	0.477243547	None	None	N
H/S	0.1414	likely_benign	0.1384	benign	-1.669	Destabilizing	0.149	N	0.525	neutral	None	None	None	None	N
H/T	0.1569	likely_benign	0.1539	benign	-1.351	Destabilizing	0.149	N	0.548	neutral	None	None	None	None	N
H/V	0.1851	likely_benign	0.1861	benign	-0.681	Destabilizing	0.149	N	0.597	neutral	None	None	None	None	N
H/W	0.2345	likely_benign	0.2364	benign	0.904	Stabilizing	0.555	D	0.567	neutral	None	None	None	None	N
H/Y	0.056	likely_benign	0.057	benign	0.728	Stabilizing	None	N	0.16	neutral	N	0.373017527	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.