TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9975	30148;30149;30150	chr2:178704549;178704548;178704547	chr2:179569276;179569275;179569274
N2AB	9658	29197;29198;29199	chr2:178704549;178704548;178704547	chr2:179569276;179569275;179569274
N2A	8731	26416;26417;26418	chr2:178704549;178704548;178704547	chr2:179569276;179569275;179569274
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: C
• RefSeq wild type transcript codon: TGT
• RefSeq wild type template codon: ACA
• Domain: Ig-84
• Domain position: 76
• Structural Position: 158
• Q(SASA): 0.1328
• 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
C/R	None	None	1.0	None	0.782	0.588	0.449379577644	gnomAD-4.0.0	6.00161E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	6.56251E-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
C/A	0.8956	likely_pathogenic	0.898	pathogenic	-1.894	Destabilizing	0.998	D	0.614	neutral	None	None	None	None	N
C/D	0.9996	likely_pathogenic	0.9993	pathogenic	-1.347	Destabilizing	1.0	D	0.774	deleterious	None	None	None	None	N
C/E	0.9999	likely_pathogenic	0.9997	pathogenic	-1.134	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
C/F	0.9772	likely_pathogenic	0.9668	pathogenic	-1.093	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
C/G	0.935	likely_pathogenic	0.9253	pathogenic	-2.271	Highly Destabilizing	1.0	D	0.741	deleterious	None	None	None	None	N
C/H	0.9987	likely_pathogenic	0.9981	pathogenic	-2.257	Highly Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
C/I	0.9779	likely_pathogenic	0.9737	pathogenic	-0.872	Destabilizing	1.0	D	0.717	prob.delet.	None	None	None	None	N
C/K	0.9999	likely_pathogenic	0.9997	pathogenic	-1.451	Destabilizing	1.0	D	0.769	deleterious	None	None	None	None	N
C/L	0.9653	likely_pathogenic	0.957	pathogenic	-0.872	Destabilizing	0.999	D	0.648	neutral	None	None	None	None	N
C/M	0.9882	likely_pathogenic	0.9852	pathogenic	0.366	Stabilizing	1.0	D	0.763	deleterious	None	None	None	None	N
C/N	0.998	likely_pathogenic	0.9974	pathogenic	-1.952	Destabilizing	1.0	D	0.78	deleterious	None	None	None	None	N
C/P	0.9997	likely_pathogenic	0.9994	pathogenic	-1.189	Destabilizing	1.0	D	0.78	deleterious	None	None	None	None	N
C/Q	0.9995	likely_pathogenic	0.9992	pathogenic	-1.563	Destabilizing	1.0	D	0.773	deleterious	None	None	None	None	N
C/R	0.9983	likely_pathogenic	0.9969	pathogenic	-1.579	Destabilizing	1.0	D	0.782	deleterious	None	None	None	None	N
C/S	0.9536	likely_pathogenic	0.9539	pathogenic	-2.372	Highly Destabilizing	1.0	D	0.733	prob.delet.	None	None	None	None	N
C/T	0.9733	likely_pathogenic	0.973	pathogenic	-1.96	Destabilizing	1.0	D	0.727	prob.delet.	None	None	None	None	N
C/V	0.9223	likely_pathogenic	0.9193	pathogenic	-1.189	Destabilizing	0.999	D	0.669	neutral	None	None	None	None	N
C/W	0.9977	likely_pathogenic	0.9962	pathogenic	-1.325	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
C/Y	0.9953	likely_pathogenic	0.9929	pathogenic	-1.246	Destabilizing	1.0	D	0.789	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.