TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31234	93925;93926;93927	chr2:178547926;178547925;178547924	chr2:179412653;179412652;179412651
N2AB	29593	89002;89003;89004	chr2:178547926;178547925;178547924	chr2:179412653;179412652;179412651
N2A	28666	86221;86222;86223	chr2:178547926;178547925;178547924	chr2:179412653;179412652;179412651
N2B	22169	66730;66731;66732	chr2:178547926;178547925;178547924	chr2:179412653;179412652;179412651
Novex-1	22294	67105;67106;67107	chr2:178547926;178547925;178547924	chr2:179412653;179412652;179412651
Novex-2	22361	67306;67307;67308	chr2:178547926;178547925;178547924	chr2:179412653;179412652;179412651
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-151
• Domain position: 17
• Structural Position: 29
• Q(SASA): 0.3119
• 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
T/I	rs548911604	None	0.997	N	0.719	0.396	0.351614576976	gnomAD-4.0.0	4.10517E-06	None	None	None	None	N	None	1.49379E-04	0	None	0	0	None	0	0	0	0	1.65651E-05

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
T/A	0.0797	likely_benign	0.0811	benign	-0.887	Destabilizing	0.37	N	0.279	neutral	N	0.487534245	None	None	N
T/C	0.2699	likely_benign	0.2878	benign	-0.507	Destabilizing	1.0	D	0.687	prob.neutral	None	None	None	None	N
T/D	0.4119	ambiguous	0.4181	ambiguous	0.191	Stabilizing	0.995	D	0.669	neutral	None	None	None	None	N
T/E	0.2886	likely_benign	0.2824	benign	0.256	Stabilizing	0.995	D	0.635	neutral	None	None	None	None	N
T/F	0.2279	likely_benign	0.2263	benign	-0.946	Destabilizing	0.999	D	0.748	deleterious	None	None	None	None	N
T/G	0.2543	likely_benign	0.2691	benign	-1.186	Destabilizing	0.967	D	0.556	neutral	None	None	None	None	N
T/H	0.1763	likely_benign	0.1761	benign	-1.298	Destabilizing	1.0	D	0.711	prob.delet.	None	None	None	None	N
T/I	0.1177	likely_benign	0.1162	benign	-0.167	Destabilizing	0.997	D	0.719	prob.delet.	N	0.49447886	None	None	N
T/K	0.174	likely_benign	0.1594	benign	-0.353	Destabilizing	0.995	D	0.663	neutral	None	None	None	None	N
T/L	0.0945	likely_benign	0.0919	benign	-0.167	Destabilizing	0.983	D	0.536	neutral	None	None	None	None	N
T/M	0.0919	likely_benign	0.0921	benign	-0.106	Destabilizing	1.0	D	0.686	prob.neutral	None	None	None	None	N
T/N	0.1272	likely_benign	0.13	benign	-0.536	Destabilizing	0.994	D	0.586	neutral	N	0.450362724	None	None	N
T/P	0.3935	ambiguous	0.3583	ambiguous	-0.374	Destabilizing	0.997	D	0.726	prob.delet.	N	0.471851494	None	None	N
T/Q	0.1758	likely_benign	0.1768	benign	-0.516	Destabilizing	0.998	D	0.725	prob.delet.	None	None	None	None	N
T/R	0.1357	likely_benign	0.1232	benign	-0.295	Destabilizing	0.998	D	0.731	prob.delet.	None	None	None	None	N
T/S	0.0959	likely_benign	0.0988	benign	-0.909	Destabilizing	0.63	D	0.352	neutral	N	0.446610343	None	None	N
T/V	0.0941	likely_benign	0.0932	benign	-0.374	Destabilizing	0.983	D	0.467	neutral	None	None	None	None	N
T/W	0.5467	ambiguous	0.5534	ambiguous	-0.912	Destabilizing	1.0	D	0.685	prob.neutral	None	None	None	None	N
T/Y	0.2444	likely_benign	0.235	benign	-0.619	Destabilizing	0.999	D	0.743	deleterious	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.