TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17913	53962;53963;53964	chr2:178605558;178605557;178605556	chr2:179470285;179470284;179470283
N2AB	16272	49039;49040;49041	chr2:178605558;178605557;178605556	chr2:179470285;179470284;179470283
N2A	15345	46258;46259;46260	chr2:178605558;178605557;178605556	chr2:179470285;179470284;179470283
N2B	8848	26767;26768;26769	chr2:178605558;178605557;178605556	chr2:179470285;179470284;179470283
Novex-1	8973	27142;27143;27144	chr2:178605558;178605557;178605556	chr2:179470285;179470284;179470283
Novex-2	9040	27343;27344;27345	chr2:178605558;178605557;178605556	chr2:179470285;179470284;179470283
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Fn3-18
• Domain position: 52
• Structural Position: 69
• Q(SASA): 0.1069
• 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
N/I	None	None	1.0	N	0.787	0.475	0.50539470866	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	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
N/A	0.8269	likely_pathogenic	0.7871	pathogenic	-0.979	Destabilizing	1.0	D	0.689	prob.neutral	None	None	None	None	N
N/C	0.5941	likely_pathogenic	0.5757	pathogenic	-0.093	Destabilizing	1.0	D	0.755	deleterious	None	None	None	None	N
N/D	0.8093	likely_pathogenic	0.7521	pathogenic	-0.636	Destabilizing	0.999	D	0.636	neutral	N	0.518884234	None	None	N
N/E	0.9457	likely_pathogenic	0.9363	pathogenic	-0.45	Destabilizing	0.999	D	0.703	prob.neutral	None	None	None	None	N
N/F	0.9759	likely_pathogenic	0.977	pathogenic	-0.553	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	N
N/G	0.702	likely_pathogenic	0.6826	pathogenic	-1.382	Destabilizing	0.999	D	0.591	neutral	None	None	None	None	N
N/H	0.6661	likely_pathogenic	0.5581	ambiguous	-0.819	Destabilizing	1.0	D	0.747	deleterious	N	0.519825596	None	None	N
N/I	0.9166	likely_pathogenic	0.8869	pathogenic	0.085	Stabilizing	1.0	D	0.787	deleterious	N	0.473521605	None	None	N
N/K	0.9855	likely_pathogenic	0.9771	pathogenic	-0.059	Destabilizing	1.0	D	0.725	prob.delet.	N	0.469861074	None	None	N
N/L	0.8619	likely_pathogenic	0.8644	pathogenic	0.085	Stabilizing	1.0	D	0.769	deleterious	None	None	None	None	N
N/M	0.8793	likely_pathogenic	0.8968	pathogenic	0.369	Stabilizing	1.0	D	0.757	deleterious	None	None	None	None	N
N/P	0.9581	likely_pathogenic	0.9351	pathogenic	-0.24	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
N/Q	0.9217	likely_pathogenic	0.9021	pathogenic	-0.657	Destabilizing	1.0	D	0.764	deleterious	None	None	None	None	N
N/R	0.9738	likely_pathogenic	0.963	pathogenic	-0.19	Destabilizing	1.0	D	0.748	deleterious	None	None	None	None	N
N/S	0.2141	likely_benign	0.1803	benign	-1.008	Destabilizing	0.999	D	0.596	neutral	N	0.504837501	None	None	N
N/T	0.5019	ambiguous	0.4717	ambiguous	-0.601	Destabilizing	0.999	D	0.688	prob.neutral	N	0.499719683	None	None	N
N/V	0.8566	likely_pathogenic	0.844	pathogenic	-0.24	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
N/W	0.9865	likely_pathogenic	0.9865	pathogenic	-0.288	Destabilizing	1.0	D	0.743	deleterious	None	None	None	None	N
N/Y	0.8739	likely_pathogenic	0.8538	pathogenic	-0.027	Destabilizing	1.0	D	0.781	deleterious	N	0.520308386	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.