TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23118	69577;69578;69579	chr2:178576983;178576982;178576981	chr2:179441710;179441709;179441708
N2AB	21477	64654;64655;64656	chr2:178576983;178576982;178576981	chr2:179441710;179441709;179441708
N2A	20550	61873;61874;61875	chr2:178576983;178576982;178576981	chr2:179441710;179441709;179441708
N2B	14053	42382;42383;42384	chr2:178576983;178576982;178576981	chr2:179441710;179441709;179441708
Novex-1	14178	42757;42758;42759	chr2:178576983;178576982;178576981	chr2:179441710;179441709;179441708
Novex-2	14245	42958;42959;42960	chr2:178576983;178576982;178576981	chr2:179441710;179441709;179441708
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: Fn3-55
• Domain position: 79
• Structural Position: 112
• Q(SASA): 0.0871
• 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/H	None	None	1.0	D	0.775	0.704	0.45470266194	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	0.9969	likely_pathogenic	0.9974	pathogenic	-1.387	Destabilizing	1.0	D	0.796	deleterious	None	None	None	None	N
N/C	0.9364	likely_pathogenic	0.9385	pathogenic	-0.822	Destabilizing	1.0	D	0.767	deleterious	None	None	None	None	N
N/D	0.9929	likely_pathogenic	0.994	pathogenic	-2.058	Highly Destabilizing	0.999	D	0.626	neutral	D	0.550692474	None	None	N
N/E	0.9991	likely_pathogenic	0.9993	pathogenic	-1.846	Destabilizing	0.999	D	0.743	deleterious	None	None	None	None	N
N/F	0.9996	likely_pathogenic	0.9996	pathogenic	-0.994	Destabilizing	1.0	D	0.806	deleterious	None	None	None	None	N
N/G	0.9861	likely_pathogenic	0.9892	pathogenic	-1.738	Destabilizing	0.999	D	0.581	neutral	None	None	None	None	N
N/H	0.9806	likely_pathogenic	0.9848	pathogenic	-1.222	Destabilizing	1.0	D	0.775	deleterious	D	0.569810687	None	None	N
N/I	0.9962	likely_pathogenic	0.9962	pathogenic	-0.456	Destabilizing	1.0	D	0.763	deleterious	D	0.570317666	None	None	N
N/K	0.9993	likely_pathogenic	0.9994	pathogenic	-0.516	Destabilizing	1.0	D	0.769	deleterious	D	0.557693913	None	None	N
N/L	0.9836	likely_pathogenic	0.9845	pathogenic	-0.456	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
N/M	0.9962	likely_pathogenic	0.9965	pathogenic	-0.261	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	N
N/P	0.998	likely_pathogenic	0.9985	pathogenic	-0.742	Destabilizing	1.0	D	0.771	deleterious	None	None	None	None	N
N/Q	0.9985	likely_pathogenic	0.9988	pathogenic	-1.177	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
N/R	0.998	likely_pathogenic	0.9981	pathogenic	-0.577	Destabilizing	1.0	D	0.797	deleterious	None	None	None	None	N
N/S	0.7509	likely_pathogenic	0.8027	pathogenic	-1.423	Destabilizing	0.999	D	0.606	neutral	D	0.525444968	None	None	N
N/T	0.9543	likely_pathogenic	0.9531	pathogenic	-1.044	Destabilizing	0.999	D	0.737	prob.delet.	N	0.512172424	None	None	N
N/V	0.9952	likely_pathogenic	0.995	pathogenic	-0.742	Destabilizing	1.0	D	0.787	deleterious	None	None	None	None	N
N/W	0.9999	likely_pathogenic	0.9999	pathogenic	-0.883	Destabilizing	1.0	D	0.769	deleterious	None	None	None	None	N
N/Y	0.9958	likely_pathogenic	0.9967	pathogenic	-0.562	Destabilizing	1.0	D	0.785	deleterious	D	0.570064176	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.