TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5644	17155;17156;17157	chr2:178731945;178731944;178731943	chr2:179596672;179596671;179596670
N2AB	5327	16204;16205;16206	chr2:178731945;178731944;178731943	chr2:179596672;179596671;179596670
N2A	4400	13423;13424;13425	chr2:178731945;178731944;178731943	chr2:179596672;179596671;179596670
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: K
• RefSeq wild type transcript codon: AAG
• RefSeq wild type template codon: TTC
• Domain: Ig-40
• Domain position: 8
• Structural Position: 9
• Q(SASA): 0.8799
• Predicted PPI site: I

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
K/R	None	None	0.001	N	0.135	0.124	0.253726318573	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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
K/A	0.1676	likely_benign	0.1584	benign	0.042	Stabilizing	0.025	N	0.249	neutral	None	None	None	None	I
K/C	0.4358	ambiguous	0.4544	ambiguous	-0.44	Destabilizing	0.958	D	0.312	neutral	None	None	None	None	I
K/D	0.2554	likely_benign	0.2487	benign	-0.341	Destabilizing	0.055	N	0.281	neutral	None	None	None	None	I
K/E	0.0811	likely_benign	0.0783	benign	-0.339	Destabilizing	None	N	0.059	neutral	N	0.394225092	None	None	I
K/F	0.4608	ambiguous	0.4784	ambiguous	-0.264	Destabilizing	0.667	D	0.405	neutral	None	None	None	None	I
K/G	0.2281	likely_benign	0.2294	benign	-0.101	Destabilizing	0.104	N	0.305	neutral	None	None	None	None	I
K/H	0.1596	likely_benign	0.1689	benign	-0.19	Destabilizing	0.001	N	0.23	neutral	None	None	None	None	I
K/I	0.1846	likely_benign	0.1891	benign	0.339	Stabilizing	0.22	N	0.471	neutral	None	None	None	None	I
K/L	0.1596	likely_benign	0.1562	benign	0.339	Stabilizing	0.104	N	0.339	neutral	None	None	None	None	I
K/M	0.1421	likely_benign	0.1429	benign	-0.155	Destabilizing	0.602	D	0.303	neutral	N	0.492735861	None	None	I
K/N	0.1814	likely_benign	0.1803	benign	-0.007	Destabilizing	0.001	N	0.111	neutral	N	0.500584553	None	None	I
K/P	0.2929	likely_benign	0.2608	benign	0.264	Stabilizing	0.364	N	0.438	neutral	None	None	None	None	I
K/Q	0.0744	likely_benign	0.0735	benign	-0.115	Destabilizing	None	N	0.109	neutral	N	0.442440327	None	None	I
K/R	0.0781	likely_benign	0.0816	benign	-0.079	Destabilizing	0.001	N	0.135	neutral	N	0.431588615	None	None	I
K/S	0.1677	likely_benign	0.1627	benign	-0.324	Destabilizing	0.005	N	0.104	neutral	None	None	None	None	I
K/T	0.0974	likely_benign	0.093	benign	-0.202	Destabilizing	0.001	N	0.104	neutral	N	0.447347501	None	None	I
K/V	0.1733	likely_benign	0.1721	benign	0.264	Stabilizing	0.104	N	0.417	neutral	None	None	None	None	I
K/W	0.5262	ambiguous	0.5716	pathogenic	-0.394	Destabilizing	0.958	D	0.309	neutral	None	None	None	None	I
K/Y	0.3415	ambiguous	0.3589	ambiguous	-0.04	Destabilizing	0.22	N	0.44	neutral	None	None	None	None	I

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.