TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19463	58612;58613;58614	chr2:178594006;178594005;178594004	chr2:179458733;179458732;179458731
N2AB	17822	53689;53690;53691	chr2:178594006;178594005;178594004	chr2:179458733;179458732;179458731
N2A	16895	50908;50909;50910	chr2:178594006;178594005;178594004	chr2:179458733;179458732;179458731
N2B	10398	31417;31418;31419	chr2:178594006;178594005;178594004	chr2:179458733;179458732;179458731
Novex-1	10523	31792;31793;31794	chr2:178594006;178594005;178594004	chr2:179458733;179458732;179458731
Novex-2	10590	31993;31994;31995	chr2:178594006;178594005;178594004	chr2:179458733;179458732;179458731
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: Ig-118
• Domain position: 73
• Structural Position: 161
• Q(SASA): 0.1802
• 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	None	None	1.0	D	0.745	0.519	0.176091768786	gnomAD-4.0.0	6.84286E-07	None	None	None	None	N	None	0	0	None	0	2.52232E-05	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	0.9978	likely_pathogenic	0.9973	pathogenic	-0.429	Destabilizing	1.0	D	0.745	deleterious	None	None	None	None	N
N/C	0.9843	likely_pathogenic	0.984	pathogenic	0.088	Stabilizing	1.0	D	0.689	prob.neutral	None	None	None	None	N
N/D	0.9894	likely_pathogenic	0.9898	pathogenic	-1.279	Destabilizing	0.999	D	0.638	neutral	N	0.516544198	None	None	N
N/E	0.9988	likely_pathogenic	0.9987	pathogenic	-1.272	Destabilizing	0.999	D	0.733	prob.delet.	None	None	None	None	N
N/F	0.9996	likely_pathogenic	0.9995	pathogenic	-0.83	Destabilizing	1.0	D	0.727	prob.delet.	None	None	None	None	N
N/G	0.9943	likely_pathogenic	0.9938	pathogenic	-0.63	Destabilizing	0.999	D	0.59	neutral	None	None	None	None	N
N/H	0.9905	likely_pathogenic	0.9906	pathogenic	-0.763	Destabilizing	1.0	D	0.746	deleterious	D	0.5359159	None	None	N
N/I	0.9952	likely_pathogenic	0.9947	pathogenic	0.03	Stabilizing	1.0	D	0.699	prob.neutral	N	0.492719178	None	None	N
N/K	0.9993	likely_pathogenic	0.9992	pathogenic	-0.023	Destabilizing	1.0	D	0.745	deleterious	D	0.524052616	None	None	N
N/L	0.9945	likely_pathogenic	0.994	pathogenic	0.03	Stabilizing	1.0	D	0.706	prob.neutral	None	None	None	None	N
N/M	0.9952	likely_pathogenic	0.9948	pathogenic	0.688	Stabilizing	1.0	D	0.722	prob.delet.	None	None	None	None	N
N/P	0.9995	likely_pathogenic	0.9994	pathogenic	-0.097	Destabilizing	1.0	D	0.707	prob.neutral	None	None	None	None	N
N/Q	0.9991	likely_pathogenic	0.999	pathogenic	-0.928	Destabilizing	1.0	D	0.731	prob.delet.	None	None	None	None	N
N/R	0.9991	likely_pathogenic	0.999	pathogenic	0.171	Stabilizing	1.0	D	0.752	deleterious	None	None	None	None	N
N/S	0.937	likely_pathogenic	0.9337	pathogenic	-0.442	Destabilizing	0.999	D	0.606	neutral	N	0.484259254	None	None	N
N/T	0.9774	likely_pathogenic	0.9769	pathogenic	-0.306	Destabilizing	0.999	D	0.723	prob.delet.	D	0.523545637	None	None	N
N/V	0.9957	likely_pathogenic	0.9949	pathogenic	-0.097	Destabilizing	1.0	D	0.703	prob.neutral	None	None	None	None	N
N/W	0.9998	likely_pathogenic	0.9998	pathogenic	-0.759	Destabilizing	1.0	D	0.694	prob.neutral	None	None	None	None	N
N/Y	0.9942	likely_pathogenic	0.9939	pathogenic	-0.421	Destabilizing	1.0	D	0.725	prob.delet.	D	0.5359159	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.