TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32089	96490;96491;96492	chr2:178543879;178543878;178543877	chr2:179408606;179408605;179408604
N2AB	30448	91567;91568;91569	chr2:178543879;178543878;178543877	chr2:179408606;179408605;179408604
N2A	29521	88786;88787;88788	chr2:178543879;178543878;178543877	chr2:179408606;179408605;179408604
N2B	23024	69295;69296;69297	chr2:178543879;178543878;178543877	chr2:179408606;179408605;179408604
Novex-1	23149	69670;69671;69672	chr2:178543879;178543878;178543877	chr2:179408606;179408605;179408604
Novex-2	23216	69871;69872;69873	chr2:178543879;178543878;178543877	chr2:179408606;179408605;179408604
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-153
• Domain position: 73
• Structural Position: 161
• Q(SASA): 0.1243
• 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	rs1695801999	None	1.0	D	0.713	0.582	0.190952846119	gnomAD-3.1.2	6.58E-06	None	None	None	None	N	None	2.41E-05	0	0	0	0	None	0	0	0	0	0
N/K	rs1695801999	None	1.0	D	0.713	0.582	0.190952846119	gnomAD-4.0.0	6.57618E-06	None	None	None	None	N	None	2.41453E-05	0	None	0	0	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	0.9896	likely_pathogenic	0.9887	pathogenic	-0.461	Destabilizing	1.0	D	0.742	deleterious	None	None	None	None	N
N/C	0.9241	likely_pathogenic	0.9197	pathogenic	0.13	Stabilizing	1.0	D	0.682	prob.neutral	None	None	None	None	N
N/D	0.9844	likely_pathogenic	0.9802	pathogenic	-1.27	Destabilizing	0.999	D	0.596	neutral	D	0.552752708	None	None	N
N/E	0.9962	likely_pathogenic	0.9958	pathogenic	-1.231	Destabilizing	0.999	D	0.683	prob.neutral	None	None	None	None	N
N/F	0.9973	likely_pathogenic	0.997	pathogenic	-0.614	Destabilizing	1.0	D	0.739	prob.delet.	None	None	None	None	N
N/G	0.9748	likely_pathogenic	0.9718	pathogenic	-0.725	Destabilizing	0.999	D	0.541	neutral	None	None	None	None	N
N/H	0.9595	likely_pathogenic	0.9527	pathogenic	-0.794	Destabilizing	1.0	D	0.727	prob.delet.	D	0.54266385	None	None	N
N/I	0.9769	likely_pathogenic	0.9735	pathogenic	0.178	Stabilizing	1.0	D	0.717	prob.delet.	D	0.533700628	None	None	N
N/K	0.9964	likely_pathogenic	0.9957	pathogenic	-0.186	Destabilizing	1.0	D	0.713	prob.delet.	D	0.565034066	None	None	N
N/L	0.9685	likely_pathogenic	0.964	pathogenic	0.178	Stabilizing	1.0	D	0.733	prob.delet.	None	None	None	None	N
N/M	0.9794	likely_pathogenic	0.9762	pathogenic	0.792	Stabilizing	1.0	D	0.721	prob.delet.	None	None	None	None	N
N/P	0.9983	likely_pathogenic	0.9982	pathogenic	-0.006	Destabilizing	1.0	D	0.72	prob.delet.	None	None	None	None	N
N/Q	0.9958	likely_pathogenic	0.9949	pathogenic	-0.998	Destabilizing	1.0	D	0.743	deleterious	None	None	None	None	N
N/R	0.9957	likely_pathogenic	0.995	pathogenic	-0.084	Destabilizing	1.0	D	0.755	deleterious	None	None	None	None	N
N/S	0.7776	likely_pathogenic	0.7514	pathogenic	-0.629	Destabilizing	0.999	D	0.565	neutral	N	0.492817629	None	None	N
N/T	0.9167	likely_pathogenic	0.9087	pathogenic	-0.443	Destabilizing	0.999	D	0.673	neutral	D	0.553006197	None	None	N
N/V	0.9761	likely_pathogenic	0.9749	pathogenic	-0.006	Destabilizing	1.0	D	0.729	prob.delet.	None	None	None	None	N
N/W	0.9993	likely_pathogenic	0.9992	pathogenic	-0.52	Destabilizing	1.0	D	0.681	prob.neutral	None	None	None	None	N
N/Y	0.9727	likely_pathogenic	0.9688	pathogenic	-0.214	Destabilizing	1.0	D	0.732	prob.delet.	D	0.565541045	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.