TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18467	55624;55625;55626	chr2:178601691;178601690;178601689	chr2:179466418;179466417;179466416
N2AB	16826	50701;50702;50703	chr2:178601691;178601690;178601689	chr2:179466418;179466417;179466416
N2A	15899	47920;47921;47922	chr2:178601691;178601690;178601689	chr2:179466418;179466417;179466416
N2B	9402	28429;28430;28431	chr2:178601691;178601690;178601689	chr2:179466418;179466417;179466416
Novex-1	9527	28804;28805;28806	chr2:178601691;178601690;178601689	chr2:179466418;179466417;179466416
Novex-2	9594	29005;29006;29007	chr2:178601691;178601690;178601689	chr2:179466418;179466417;179466416
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-115
• Domain position: 86
• Structural Position: 165
• Q(SASA): 0.5972
• Predicted PPI site: I

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
Q/K	None	None	0.997	N	0.519	0.355	0.296329037015	gnomAD-4.0.0	1.60775E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.87297E-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
Q/A	0.2679	likely_benign	0.285	benign	-0.271	Destabilizing	0.997	D	0.528	neutral	None	None	None	None	I
Q/C	0.5795	likely_pathogenic	0.6306	pathogenic	0.219	Stabilizing	1.0	D	0.697	prob.neutral	None	None	None	None	I
Q/D	0.5779	likely_pathogenic	0.6404	pathogenic	-0.06	Destabilizing	0.997	D	0.579	neutral	None	None	None	None	I
Q/E	0.1052	likely_benign	0.107	benign	-0.097	Destabilizing	0.992	D	0.424	neutral	N	0.452998463	None	None	I
Q/F	0.647	likely_pathogenic	0.6981	pathogenic	-0.498	Destabilizing	0.999	D	0.672	neutral	None	None	None	None	I
Q/G	0.3909	ambiguous	0.4307	ambiguous	-0.452	Destabilizing	0.997	D	0.545	neutral	None	None	None	None	I
Q/H	0.2628	likely_benign	0.3	benign	-0.422	Destabilizing	0.999	D	0.622	neutral	N	0.511761552	None	None	I
Q/I	0.3165	likely_benign	0.3474	ambiguous	0.118	Stabilizing	0.999	D	0.68	prob.neutral	None	None	None	None	I
Q/K	0.115	likely_benign	0.1239	benign	0.068	Stabilizing	0.997	D	0.519	neutral	N	0.476085967	None	None	I
Q/L	0.1649	likely_benign	0.1827	benign	0.118	Stabilizing	0.997	D	0.545	neutral	N	0.50081384	None	None	I
Q/M	0.3007	likely_benign	0.3134	benign	0.457	Stabilizing	0.999	D	0.623	neutral	None	None	None	None	I
Q/N	0.3698	ambiguous	0.4106	ambiguous	-0.208	Destabilizing	0.999	D	0.579	neutral	None	None	None	None	I
Q/P	0.5564	ambiguous	0.6332	pathogenic	0.016	Stabilizing	0.999	D	0.606	neutral	D	0.530616672	None	None	I
Q/R	0.1455	likely_benign	0.1591	benign	0.222	Stabilizing	0.997	D	0.583	neutral	N	0.483785517	None	None	I
Q/S	0.2678	likely_benign	0.2783	benign	-0.21	Destabilizing	0.997	D	0.543	neutral	None	None	None	None	I
Q/T	0.175	likely_benign	0.1899	benign	-0.095	Destabilizing	0.999	D	0.562	neutral	None	None	None	None	I
Q/V	0.2012	likely_benign	0.2192	benign	0.016	Stabilizing	0.999	D	0.541	neutral	None	None	None	None	I
Q/W	0.5576	ambiguous	0.6074	pathogenic	-0.462	Destabilizing	1.0	D	0.681	prob.neutral	None	None	None	None	I
Q/Y	0.4953	ambiguous	0.5542	ambiguous	-0.212	Destabilizing	0.999	D	0.608	neutral	None	None	None	None	I

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.