TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15561	46906;46907;46908	chr2:178619636;178619635;178619634	chr2:179484363;179484362;179484361
N2AB	13920	41983;41984;41985	chr2:178619636;178619635;178619634	chr2:179484363;179484362;179484361
N2A	12993	39202;39203;39204	chr2:178619636;178619635;178619634	chr2:179484363;179484362;179484361
N2B	6496	19711;19712;19713	chr2:178619636;178619635;178619634	chr2:179484363;179484362;179484361
Novex-1	6621	20086;20087;20088	chr2:178619636;178619635;178619634	chr2:179484363;179484362;179484361
Novex-2	6688	20287;20288;20289	chr2:178619636;178619635;178619634	chr2:179484363;179484362;179484361
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-107
• Domain position: 82
• Structural Position: 173
• Q(SASA): 0.7348
• 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/N	None	None	1.0	N	0.702	0.244	0.258283824007	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	0.6877	likely_pathogenic	0.6643	pathogenic	-0.557	Destabilizing	0.999	D	0.699	prob.neutral	None	None	None	None	I
K/C	0.8408	likely_pathogenic	0.806	pathogenic	-0.568	Destabilizing	1.0	D	0.771	deleterious	None	None	None	None	I
K/D	0.9128	likely_pathogenic	0.8896	pathogenic	-0.129	Destabilizing	1.0	D	0.762	deleterious	None	None	None	None	I
K/E	0.5401	ambiguous	0.522	ambiguous	-0.028	Destabilizing	0.999	D	0.589	neutral	N	0.501925779	None	None	I
K/F	0.8688	likely_pathogenic	0.8332	pathogenic	-0.24	Destabilizing	1.0	D	0.739	prob.delet.	None	None	None	None	I
K/G	0.8552	likely_pathogenic	0.833	pathogenic	-0.92	Destabilizing	1.0	D	0.695	prob.neutral	None	None	None	None	I
K/H	0.4438	ambiguous	0.4033	ambiguous	-1.251	Destabilizing	1.0	D	0.717	prob.delet.	None	None	None	None	I
K/I	0.5057	ambiguous	0.4585	ambiguous	0.38	Stabilizing	1.0	D	0.748	deleterious	None	None	None	None	I
K/L	0.5623	ambiguous	0.5318	ambiguous	0.38	Stabilizing	1.0	D	0.695	prob.neutral	None	None	None	None	I
K/M	0.427	ambiguous	0.3867	ambiguous	0.263	Stabilizing	1.0	D	0.711	prob.delet.	D	0.547558535	None	None	I
K/N	0.7286	likely_pathogenic	0.682	pathogenic	-0.428	Destabilizing	1.0	D	0.702	prob.neutral	N	0.499416171	None	None	I
K/P	0.9656	likely_pathogenic	0.9579	pathogenic	0.098	Stabilizing	1.0	D	0.759	deleterious	None	None	None	None	I
K/Q	0.277	likely_benign	0.2736	benign	-0.521	Destabilizing	1.0	D	0.685	prob.neutral	N	0.50880408	None	None	I
K/R	0.0996	likely_benign	0.0995	benign	-0.626	Destabilizing	0.999	D	0.536	neutral	N	0.50107029	None	None	I
K/S	0.7434	likely_pathogenic	0.7154	pathogenic	-1.088	Destabilizing	0.999	D	0.639	neutral	None	None	None	None	I
K/T	0.3523	ambiguous	0.3217	benign	-0.783	Destabilizing	1.0	D	0.743	deleterious	N	0.505749117	None	None	I
K/V	0.4429	ambiguous	0.4197	ambiguous	0.098	Stabilizing	1.0	D	0.725	prob.delet.	None	None	None	None	I
K/W	0.8694	likely_pathogenic	0.8516	pathogenic	-0.103	Destabilizing	1.0	D	0.773	deleterious	None	None	None	None	I
K/Y	0.7922	likely_pathogenic	0.7583	pathogenic	0.176	Stabilizing	1.0	D	0.722	prob.delet.	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.