TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22749	68470;68471;68472	chr2:178578695;178578694;178578693	chr2:179443422;179443421;179443420
N2AB	21108	63547;63548;63549	chr2:178578695;178578694;178578693	chr2:179443422;179443421;179443420
N2A	20181	60766;60767;60768	chr2:178578695;178578694;178578693	chr2:179443422;179443421;179443420
N2B	13684	41275;41276;41277	chr2:178578695;178578694;178578693	chr2:179443422;179443421;179443420
Novex-1	13809	41650;41651;41652	chr2:178578695;178578694;178578693	chr2:179443422;179443421;179443420
Novex-2	13876	41851;41852;41853	chr2:178578695;178578694;178578693	chr2:179443422;179443421;179443420
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Fn3-53
• Domain position: 7
• Structural Position: 7
• Q(SASA): 0.1624
• 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
P/H	None	None	1.0	N	0.887	0.446	0.433157607263	gnomAD-4.0.0	2.05593E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.70034E-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
P/A	0.0618	likely_benign	0.0629	benign	-1.452	Destabilizing	1.0	D	0.775	deleterious	N	0.452485883	None	None	N
P/C	0.4261	ambiguous	0.4258	ambiguous	-0.922	Destabilizing	1.0	D	0.866	deleterious	None	None	None	None	N
P/D	0.7466	likely_pathogenic	0.769	pathogenic	-1.481	Destabilizing	1.0	D	0.869	deleterious	None	None	None	None	N
P/E	0.4046	ambiguous	0.4165	ambiguous	-1.54	Destabilizing	1.0	D	0.873	deleterious	None	None	None	None	N
P/F	0.5158	ambiguous	0.5229	ambiguous	-1.376	Destabilizing	1.0	D	0.913	deleterious	None	None	None	None	N
P/G	0.4003	ambiguous	0.4081	ambiguous	-1.707	Destabilizing	1.0	D	0.862	deleterious	None	None	None	None	N
P/H	0.2698	likely_benign	0.2708	benign	-1.256	Destabilizing	1.0	D	0.887	deleterious	N	0.476533345	None	None	N
P/I	0.2454	likely_benign	0.2544	benign	-0.871	Destabilizing	1.0	D	0.939	deleterious	None	None	None	None	N
P/K	0.3026	likely_benign	0.3276	benign	-1.165	Destabilizing	1.0	D	0.873	deleterious	None	None	None	None	N
P/L	0.1348	likely_benign	0.1352	benign	-0.871	Destabilizing	1.0	D	0.92	deleterious	N	0.494130621	None	None	N
P/M	0.2785	likely_benign	0.2801	benign	-0.549	Destabilizing	1.0	D	0.887	deleterious	None	None	None	None	N
P/N	0.496	ambiguous	0.4958	ambiguous	-0.872	Destabilizing	1.0	D	0.939	deleterious	None	None	None	None	N
P/Q	0.1643	likely_benign	0.161	benign	-1.156	Destabilizing	1.0	D	0.907	deleterious	None	None	None	None	N
P/R	0.2029	likely_benign	0.2098	benign	-0.547	Destabilizing	1.0	D	0.939	deleterious	N	0.437748504	None	None	N
P/S	0.136	likely_benign	0.1358	benign	-1.304	Destabilizing	1.0	D	0.856	deleterious	N	0.482635432	None	None	N
P/T	0.1141	likely_benign	0.1166	benign	-1.266	Destabilizing	1.0	D	0.867	deleterious	N	0.425435355	None	None	N
P/V	0.1616	likely_benign	0.1652	benign	-1.031	Destabilizing	1.0	D	0.898	deleterious	None	None	None	None	N
P/W	0.774	likely_pathogenic	0.7823	pathogenic	-1.487	Destabilizing	1.0	D	0.807	deleterious	None	None	None	None	N
P/Y	0.5029	ambiguous	0.5185	ambiguous	-1.222	Destabilizing	1.0	D	0.921	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.