TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4828	14707;14708;14709	chr2:178735964;178735963;178735962	chr2:179600691;179600690;179600689
N2AB	4511	13756;13757;13758	chr2:178735964;178735963;178735962	chr2:179600691;179600690;179600689
N2A	3584	10975;10976;10977	chr2:178735964;178735963;178735962	chr2:179600691;179600690;179600689
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: W
• RefSeq wild type transcript codon: TGG
• RefSeq wild type template codon: ACC
• Domain: Ig-31
• Domain position: 34
• Structural Position: 48
• Q(SASA): 0.1367
• 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
W/S	rs747830811	-3.291	1.0	D	0.839	0.866	0.969610535463	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	5.58E-05	None	0	None	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
W/A	0.9902	likely_pathogenic	0.9921	pathogenic	-3.423	Highly Destabilizing	1.0	D	0.84	deleterious	None	None	None	None	N
W/C	0.9883	likely_pathogenic	0.9903	pathogenic	-2.056	Highly Destabilizing	1.0	D	0.777	deleterious	D	0.756184558	None	None	N
W/D	0.999	likely_pathogenic	0.9993	pathogenic	-3.444	Highly Destabilizing	1.0	D	0.863	deleterious	None	None	None	None	N
W/E	0.998	likely_pathogenic	0.9986	pathogenic	-3.34	Highly Destabilizing	1.0	D	0.836	deleterious	None	None	None	None	N
W/F	0.6193	likely_pathogenic	0.5691	pathogenic	-2.154	Highly Destabilizing	1.0	D	0.84	deleterious	None	None	None	None	N
W/G	0.9666	likely_pathogenic	0.974	pathogenic	-3.657	Highly Destabilizing	1.0	D	0.807	deleterious	D	0.756234398	None	None	N
W/H	0.9919	likely_pathogenic	0.9926	pathogenic	-2.409	Highly Destabilizing	1.0	D	0.816	deleterious	None	None	None	None	N
W/I	0.9472	likely_pathogenic	0.9472	pathogenic	-2.521	Highly Destabilizing	1.0	D	0.853	deleterious	None	None	None	None	N
W/K	0.9991	likely_pathogenic	0.9993	pathogenic	-2.654	Highly Destabilizing	1.0	D	0.834	deleterious	None	None	None	None	N
W/L	0.8589	likely_pathogenic	0.8558	pathogenic	-2.521	Highly Destabilizing	1.0	D	0.807	deleterious	D	0.728294334	None	None	N
W/M	0.9816	likely_pathogenic	0.9812	pathogenic	-1.972	Destabilizing	1.0	D	0.782	deleterious	None	None	None	None	N
W/N	0.9986	likely_pathogenic	0.9988	pathogenic	-3.305	Highly Destabilizing	1.0	D	0.87	deleterious	None	None	None	None	N
W/P	0.9956	likely_pathogenic	0.9967	pathogenic	-2.851	Highly Destabilizing	1.0	D	0.873	deleterious	None	None	None	None	N
W/Q	0.9979	likely_pathogenic	0.9984	pathogenic	-3.186	Highly Destabilizing	1.0	D	0.847	deleterious	None	None	None	None	N
W/R	0.9965	likely_pathogenic	0.9973	pathogenic	-2.233	Highly Destabilizing	1.0	D	0.864	deleterious	D	0.756184558	None	None	N
W/S	0.9828	likely_pathogenic	0.9872	pathogenic	-3.517	Highly Destabilizing	1.0	D	0.839	deleterious	D	0.756184558	None	None	N
W/T	0.9898	likely_pathogenic	0.9921	pathogenic	-3.347	Highly Destabilizing	1.0	D	0.82	deleterious	None	None	None	None	N
W/V	0.9626	likely_pathogenic	0.964	pathogenic	-2.851	Highly Destabilizing	1.0	D	0.836	deleterious	None	None	None	None	N
W/Y	0.8943	likely_pathogenic	0.8805	pathogenic	-2.044	Highly Destabilizing	1.0	D	0.8	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.