TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8370	25333;25334;25335	chr2:178717766;178717765;178717764	chr2:179582493;179582492;179582491
N2AB	8053	24382;24383;24384	chr2:178717766;178717765;178717764	chr2:179582493;179582492;179582491
N2A	7126	21601;21602;21603	chr2:178717766;178717765;178717764	chr2:179582493;179582492;179582491
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-69
• Domain position: 11
• Structural Position: 14
• Q(SASA): 0.8047
• 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/Q	None	None	None	N	0.085	0.166	0.0297737177859	gnomAD-4.0.0	3.42986E-06	None	None	None	None	N	None	0	0	None	3.84645E-05	0	None	1.88296E-05	0	2.70256E-06	0	0
H/R	rs1439210373	-0.303	0.007	N	0.212	0.13	0.185906805712	gnomAD-2.1.1	4.09E-06	None	None	None	None	N	None	0	2.94E-05	None	0	0	None	0	None	0	0	0
H/R	rs1439210373	-0.303	0.007	N	0.212	0.13	0.185906805712	gnomAD-4.0.0	5.48595E-06	None	None	None	None	N	None	0	2.25652E-05	None	0	0	None	0	0	6.30456E-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
H/A	0.1527	likely_benign	0.1539	benign	0.14	Stabilizing	0.004	N	0.198	neutral	None	None	None	None	N
H/C	0.1871	likely_benign	0.1806	benign	0.714	Stabilizing	0.424	N	0.281	neutral	None	None	None	None	N
H/D	0.1319	likely_benign	0.1515	benign	-0.093	Destabilizing	0.002	N	0.198	neutral	N	0.46679448	None	None	N
H/E	0.1058	likely_benign	0.1067	benign	-0.047	Destabilizing	None	N	0.081	neutral	None	None	None	None	N
H/F	0.2702	likely_benign	0.2793	benign	0.98	Stabilizing	0.059	N	0.385	neutral	None	None	None	None	N
H/G	0.2037	likely_benign	0.2169	benign	-0.179	Destabilizing	0.02	N	0.255	neutral	None	None	None	None	N
H/I	0.1993	likely_benign	0.2025	benign	0.973	Stabilizing	0.009	N	0.356	neutral	None	None	None	None	N
H/K	0.1161	likely_benign	0.1154	benign	0.094	Stabilizing	0.004	N	0.189	neutral	None	None	None	None	N
H/L	0.0931	likely_benign	0.0925	benign	0.973	Stabilizing	None	N	0.143	neutral	N	0.460407225	None	None	N
H/M	0.2993	likely_benign	0.2899	benign	0.728	Stabilizing	0.136	N	0.341	neutral	None	None	None	None	N
H/N	0.0725	likely_benign	0.0758	benign	0.093	Stabilizing	0.01	N	0.224	neutral	N	0.469122709	None	None	N
H/P	0.1366	likely_benign	0.1462	benign	0.721	Stabilizing	None	N	0.106	neutral	N	0.482745367	None	None	N
H/Q	0.0713	likely_benign	0.0702	benign	0.249	Stabilizing	None	N	0.085	neutral	N	0.42254227	None	None	N
H/R	0.0661	likely_benign	0.0669	benign	-0.582	Destabilizing	0.007	N	0.212	neutral	N	0.441474748	None	None	N
H/S	0.1218	likely_benign	0.1241	benign	0.211	Stabilizing	0.002	N	0.101	neutral	None	None	None	None	N
H/T	0.1213	likely_benign	0.12	benign	0.36	Stabilizing	0.003	N	0.255	neutral	None	None	None	None	N
H/V	0.1492	likely_benign	0.1501	benign	0.721	Stabilizing	0.01	N	0.255	neutral	None	None	None	None	N
H/W	0.3087	likely_benign	0.3289	benign	1.034	Stabilizing	0.932	D	0.271	neutral	None	None	None	None	N
H/Y	0.0979	likely_benign	0.102	benign	1.267	Stabilizing	0.088	N	0.313	neutral	N	0.467661271	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.