TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18807	56644;56645;56646	chr2:178599374;178599373;178599372	chr2:179464101;179464100;179464099
N2AB	17166	51721;51722;51723	chr2:178599374;178599373;178599372	chr2:179464101;179464100;179464099
N2A	16239	48940;48941;48942	chr2:178599374;178599373;178599372	chr2:179464101;179464100;179464099
N2B	9742	29449;29450;29451	chr2:178599374;178599373;178599372	chr2:179464101;179464100;179464099
Novex-1	9867	29824;29825;29826	chr2:178599374;178599373;178599372	chr2:179464101;179464100;179464099
Novex-2	9934	30025;30026;30027	chr2:178599374;178599373;178599372	chr2:179464101;179464100;179464099
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: F
• RefSeq wild type transcript codon: TTT
• RefSeq wild type template codon: AAA
• Domain: Fn3-24
• Domain position: 24
• Structural Position: 25
• Q(SASA): 0.4943
• 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
F/L	rs2052666305	None	None	N	0.113	0.121	0.246773566709	gnomAD-4.0.0	1.38371E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.80791E-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
F/A	0.1279	likely_benign	0.1201	benign	-1.403	Destabilizing	None	N	0.273	neutral	None	None	None	None	N
F/C	0.119	likely_benign	0.1237	benign	-0.453	Destabilizing	0.018	N	0.35	neutral	N	0.423088483	None	None	N
F/D	0.2342	likely_benign	0.1986	benign	0.135	Stabilizing	None	N	0.362	neutral	None	None	None	None	N
F/E	0.216	likely_benign	0.1835	benign	0.14	Stabilizing	None	N	0.343	neutral	None	None	None	None	N
F/G	0.2328	likely_benign	0.2173	benign	-1.649	Destabilizing	None	N	0.359	neutral	None	None	None	None	N
F/H	0.1328	likely_benign	0.1234	benign	-0.084	Destabilizing	0.003	N	0.321	neutral	None	None	None	None	N
F/I	0.0858	likely_benign	0.0836	benign	-0.729	Destabilizing	None	N	0.117	neutral	N	0.406406877	None	None	N
F/K	0.1999	likely_benign	0.1642	benign	-0.458	Destabilizing	None	N	0.358	neutral	None	None	None	None	N
F/L	0.151	likely_benign	0.1534	benign	-0.729	Destabilizing	None	N	0.113	neutral	N	0.361442591	None	None	N
F/M	0.1218	likely_benign	0.1176	benign	-0.538	Destabilizing	None	N	0.225	neutral	None	None	None	None	N
F/N	0.1219	likely_benign	0.1099	benign	-0.396	Destabilizing	None	N	0.342	neutral	None	None	None	None	N
F/P	0.6909	likely_pathogenic	0.6122	pathogenic	-0.938	Destabilizing	0.001	N	0.397	neutral	None	None	None	None	N
F/Q	0.1364	likely_benign	0.1248	benign	-0.49	Destabilizing	None	N	0.371	neutral	None	None	None	None	N
F/R	0.1825	likely_benign	0.1593	benign	0.126	Stabilizing	None	N	0.365	neutral	None	None	None	None	N
F/S	0.0895	likely_benign	0.0832	benign	-1.086	Destabilizing	None	N	0.263	neutral	N	0.357495422	None	None	N
F/T	0.1477	likely_benign	0.1365	benign	-0.988	Destabilizing	None	N	0.255	neutral	None	None	None	None	N
F/V	0.0873	likely_benign	0.0847	benign	-0.938	Destabilizing	None	N	0.199	neutral	N	0.408831106	None	None	N
F/W	0.2069	likely_benign	0.2016	benign	-0.337	Destabilizing	0.051	N	0.382	neutral	None	None	None	None	N
F/Y	0.075	likely_benign	0.0692	benign	-0.413	Destabilizing	0.001	N	0.181	neutral	N	0.41214077	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.