TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20830	62713;62714;62715	chr2:178589237;178589236;178589235	chr2:179453964;179453963;179453962
N2AB	19189	57790;57791;57792	chr2:178589237;178589236;178589235	chr2:179453964;179453963;179453962
N2A	18262	55009;55010;55011	chr2:178589237;178589236;178589235	chr2:179453964;179453963;179453962
N2B	11765	35518;35519;35520	chr2:178589237;178589236;178589235	chr2:179453964;179453963;179453962
Novex-1	11890	35893;35894;35895	chr2:178589237;178589236;178589235	chr2:179453964;179453963;179453962
Novex-2	11957	36094;36095;36096	chr2:178589237;178589236;178589235	chr2:179453964;179453963;179453962
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Ig-122
• Domain position: 62
• Structural Position: 139
• Q(SASA): 0.2207
• 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
S/Y	None	None	0.602	N	0.643	0.226	0.361758802978	gnomAD-4.0.0	1.59178E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85917E-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
S/A	0.0851	likely_benign	0.0892	benign	-0.683	Destabilizing	0.001	N	0.279	neutral	N	0.49173021	None	None	N
S/C	0.0752	likely_benign	0.0772	benign	-0.412	Destabilizing	0.602	D	0.591	neutral	D	0.530115239	None	None	N
S/D	0.4768	ambiguous	0.5674	pathogenic	-0.627	Destabilizing	0.22	N	0.575	neutral	None	None	None	None	N
S/E	0.4581	ambiguous	0.515	ambiguous	-0.479	Destabilizing	0.22	N	0.543	neutral	None	None	None	None	N
S/F	0.0913	likely_benign	0.0938	benign	-0.543	Destabilizing	0.175	N	0.614	neutral	N	0.468469348	None	None	N
S/G	0.1527	likely_benign	0.1695	benign	-1.06	Destabilizing	0.104	N	0.515	neutral	None	None	None	None	N
S/H	0.2397	likely_benign	0.2628	benign	-1.435	Destabilizing	0.859	D	0.597	neutral	None	None	None	None	N
S/I	0.0692	likely_benign	0.0651	benign	0.255	Stabilizing	None	N	0.423	neutral	None	None	None	None	N
S/K	0.7217	likely_pathogenic	0.7724	pathogenic	-0.203	Destabilizing	0.104	N	0.542	neutral	None	None	None	None	N
S/L	0.0603	likely_benign	0.0586	benign	0.255	Stabilizing	None	N	0.364	neutral	None	None	None	None	N
S/M	0.1044	likely_benign	0.1052	benign	0.153	Stabilizing	0.497	N	0.633	neutral	None	None	None	None	N
S/N	0.1451	likely_benign	0.1624	benign	-0.652	Destabilizing	0.22	N	0.579	neutral	None	None	None	None	N
S/P	0.9046	likely_pathogenic	0.9334	pathogenic	-0.021	Destabilizing	0.301	N	0.629	neutral	N	0.501772803	None	None	N
S/Q	0.3994	ambiguous	0.4399	ambiguous	-0.481	Destabilizing	0.364	N	0.605	neutral	None	None	None	None	N
S/R	0.6124	likely_pathogenic	0.6538	pathogenic	-0.53	Destabilizing	0.22	N	0.621	neutral	None	None	None	None	N
S/T	0.0596	likely_benign	0.0627	benign	-0.446	Destabilizing	None	N	0.321	neutral	N	0.397835827	None	None	N
S/V	0.0857	likely_benign	0.0841	benign	-0.021	Destabilizing	None	N	0.424	neutral	None	None	None	None	N
S/W	0.2137	likely_benign	0.2153	benign	-0.711	Destabilizing	0.958	D	0.633	neutral	None	None	None	None	N
S/Y	0.1221	likely_benign	0.1292	benign	-0.293	Destabilizing	0.602	D	0.643	neutral	N	0.483977518	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.