TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14223	42892;42893;42894	chr2:178633832;178633831;178633830	chr2:179498559;179498558;179498557
N2AB	12582	37969;37970;37971	chr2:178633832;178633831;178633830	chr2:179498559;179498558;179498557
N2A	11655	35188;35189;35190	chr2:178633832;178633831;178633830	chr2:179498559;179498558;179498557
N2B	5158	15697;15698;15699	chr2:178633832;178633831;178633830	chr2:179498559;179498558;179498557
Novex-1	5283	16072;16073;16074	chr2:178633832;178633831;178633830	chr2:179498559;179498558;179498557
Novex-2	5350	16273;16274;16275	chr2:178633832;178633831;178633830	chr2:179498559;179498558;179498557
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-92
• Domain position: 82
• Structural Position: 173
• Q(SASA): 0.5759
• 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
Q/H	rs371287021	-0.645	None	N	0.131	0.081	0.0138822411134	gnomAD-2.1.1	3.19E-05	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	6.48E-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
Q/A	0.1538	likely_benign	0.1189	benign	-0.657	Destabilizing	0.014	N	0.287	neutral	None	None	None	None	N
Q/C	0.3703	ambiguous	0.2703	benign	-0.107	Destabilizing	0.864	D	0.468	neutral	None	None	None	None	N
Q/D	0.1885	likely_benign	0.1507	benign	-0.747	Destabilizing	0.007	N	0.247	neutral	None	None	None	None	N
Q/E	0.0809	likely_benign	0.0794	benign	-0.653	Destabilizing	0.005	N	0.195	neutral	N	0.43096717	None	None	N
Q/F	0.3435	ambiguous	0.2941	benign	-0.434	Destabilizing	0.214	N	0.545	neutral	None	None	None	None	N
Q/G	0.2139	likely_benign	0.1822	benign	-1.006	Destabilizing	0.007	N	0.277	neutral	None	None	None	None	N
Q/H	0.0903	likely_benign	0.0654	benign	-0.918	Destabilizing	None	N	0.131	neutral	N	0.441145034	None	None	N
Q/I	0.2282	likely_benign	0.1754	benign	0.229	Stabilizing	0.136	N	0.543	neutral	None	None	None	None	N
Q/K	0.0713	likely_benign	0.0682	benign	-0.309	Destabilizing	None	N	0.119	neutral	N	0.403906856	None	None	N
Q/L	0.0935	likely_benign	0.073	benign	0.229	Stabilizing	0.024	N	0.385	neutral	N	0.448370922	None	None	N
Q/M	0.2509	likely_benign	0.1947	benign	0.689	Stabilizing	0.628	D	0.399	neutral	None	None	None	None	N
Q/N	0.0912	likely_benign	0.0515	benign	-0.904	Destabilizing	None	N	0.123	neutral	None	None	None	None	N
Q/P	0.2131	likely_benign	0.2015	benign	-0.035	Destabilizing	0.106	N	0.453	neutral	N	0.444769971	None	None	N
Q/R	0.0846	likely_benign	0.0801	benign	-0.247	Destabilizing	0.012	N	0.302	neutral	N	0.398772765	None	None	N
Q/S	0.1229	likely_benign	0.0913	benign	-0.984	Destabilizing	0.007	N	0.22	neutral	None	None	None	None	N
Q/T	0.1185	likely_benign	0.0889	benign	-0.694	Destabilizing	0.016	N	0.344	neutral	None	None	None	None	N
Q/V	0.1573	likely_benign	0.1253	benign	-0.035	Destabilizing	0.136	N	0.463	neutral	None	None	None	None	N
Q/W	0.2995	likely_benign	0.2847	benign	-0.307	Destabilizing	0.864	D	0.479	neutral	None	None	None	None	N
Q/Y	0.1821	likely_benign	0.1432	benign	-0.061	Destabilizing	0.038	N	0.45	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.