TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31387	94384;94385;94386	chr2:178547467;178547466;178547465	chr2:179412194;179412193;179412192
N2AB	29746	89461;89462;89463	chr2:178547467;178547466;178547465	chr2:179412194;179412193;179412192
N2A	28819	86680;86681;86682	chr2:178547467;178547466;178547465	chr2:179412194;179412193;179412192
N2B	22322	67189;67190;67191	chr2:178547467;178547466;178547465	chr2:179412194;179412193;179412192
Novex-1	22447	67564;67565;67566	chr2:178547467;178547466;178547465	chr2:179412194;179412193;179412192
Novex-2	22514	67765;67766;67767	chr2:178547467;178547466;178547465	chr2:179412194;179412193;179412192
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: Fn3-116
• Domain position: 80
• Structural Position: 112
• Q(SASA): 0.1011
• 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/K	rs1252079185	None	1.0	D	0.753	0.591	0.288727942641	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	0	0	0	0	1.92604E-04	None	0	0	0	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	0.9988	likely_pathogenic	0.9985	pathogenic	-1.23	Destabilizing	1.0	D	0.788	deleterious	None	None	None	None	N
N/C	0.9752	likely_pathogenic	0.9704	pathogenic	-1.001	Destabilizing	1.0	D	0.786	deleterious	None	None	None	None	N
N/D	0.9811	likely_pathogenic	0.9741	pathogenic	-2.349	Highly Destabilizing	0.999	D	0.611	neutral	D	0.530919605	None	None	N
N/E	0.9987	likely_pathogenic	0.9983	pathogenic	-2.164	Highly Destabilizing	0.999	D	0.718	prob.delet.	None	None	None	None	N
N/F	0.9994	likely_pathogenic	0.9993	pathogenic	-1.113	Destabilizing	1.0	D	0.821	deleterious	None	None	None	None	N
N/G	0.9929	likely_pathogenic	0.9909	pathogenic	-1.515	Destabilizing	0.999	D	0.567	neutral	None	None	None	None	N
N/H	0.9873	likely_pathogenic	0.9844	pathogenic	-1.065	Destabilizing	1.0	D	0.773	deleterious	D	0.550633703	None	None	N
N/I	0.9963	likely_pathogenic	0.9957	pathogenic	-0.494	Destabilizing	1.0	D	0.789	deleterious	D	0.550887192	None	None	N
N/K	0.9992	likely_pathogenic	0.9989	pathogenic	-0.443	Destabilizing	1.0	D	0.753	deleterious	D	0.549619745	None	None	N
N/L	0.9903	likely_pathogenic	0.9893	pathogenic	-0.494	Destabilizing	1.0	D	0.794	deleterious	None	None	None	None	N
N/M	0.9951	likely_pathogenic	0.9943	pathogenic	-0.372	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	N
N/P	0.9995	likely_pathogenic	0.9995	pathogenic	-0.717	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
N/Q	0.999	likely_pathogenic	0.9987	pathogenic	-1.24	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
N/R	0.9988	likely_pathogenic	0.9985	pathogenic	-0.368	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
N/S	0.9364	likely_pathogenic	0.9173	pathogenic	-1.294	Destabilizing	0.999	D	0.593	neutral	N	0.518384758	None	None	N
N/T	0.9754	likely_pathogenic	0.9664	pathogenic	-0.967	Destabilizing	0.999	D	0.713	prob.delet.	N	0.503176884	None	None	N
N/V	0.9962	likely_pathogenic	0.9953	pathogenic	-0.717	Destabilizing	1.0	D	0.807	deleterious	None	None	None	None	N
N/W	0.9998	likely_pathogenic	0.9998	pathogenic	-1.08	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
N/Y	0.9925	likely_pathogenic	0.9922	pathogenic	-0.696	Destabilizing	1.0	D	0.791	deleterious	D	0.539277397	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.