TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15526	46801;46802;46803	chr2:178619741;178619740;178619739	chr2:179484468;179484467;179484466
N2AB	13885	41878;41879;41880	chr2:178619741;178619740;178619739	chr2:179484468;179484467;179484466
N2A	12958	39097;39098;39099	chr2:178619741;178619740;178619739	chr2:179484468;179484467;179484466
N2B	6461	19606;19607;19608	chr2:178619741;178619740;178619739	chr2:179484468;179484467;179484466
Novex-1	6586	19981;19982;19983	chr2:178619741;178619740;178619739	chr2:179484468;179484467;179484466
Novex-2	6653	20182;20183;20184	chr2:178619741;178619740;178619739	chr2:179484468;179484467;179484466
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-107
• Domain position: 47
• Structural Position: 122
• Q(SASA): 0.4914
• 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
Q/L	None	None	0.997	N	0.545	0.5	0.575346514103	gnomAD-4.0.0	1.5938E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86387E-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	0.5067	ambiguous	0.5147	ambiguous	-0.303	Destabilizing	0.997	D	0.46	neutral	None	None	None	None	N
Q/C	0.864	likely_pathogenic	0.9104	pathogenic	0.09	Stabilizing	1.0	D	0.679	prob.neutral	None	None	None	None	N
Q/D	0.8196	likely_pathogenic	0.8355	pathogenic	-1.306	Destabilizing	0.997	D	0.469	neutral	None	None	None	None	N
Q/E	0.1994	likely_benign	0.1907	benign	-1.21	Destabilizing	0.992	D	0.332	neutral	N	0.500696615	None	None	N
Q/F	0.8573	likely_pathogenic	0.8632	pathogenic	-0.11	Destabilizing	0.999	D	0.707	prob.neutral	None	None	None	None	N
Q/G	0.6851	likely_pathogenic	0.7114	pathogenic	-0.661	Destabilizing	0.997	D	0.545	neutral	None	None	None	None	N
Q/H	0.4883	ambiguous	0.4862	ambiguous	-0.809	Destabilizing	0.999	D	0.595	neutral	N	0.492204728	None	None	N
Q/I	0.5425	ambiguous	0.5317	ambiguous	0.607	Stabilizing	0.999	D	0.717	prob.delet.	None	None	None	None	N
Q/K	0.2141	likely_benign	0.1892	benign	-0.426	Destabilizing	0.997	D	0.401	neutral	N	0.486096908	None	None	N
Q/L	0.2972	likely_benign	0.288	benign	0.607	Stabilizing	0.997	D	0.545	neutral	N	0.509642538	None	None	N
Q/M	0.4888	ambiguous	0.537	ambiguous	1.099	Stabilizing	0.999	D	0.593	neutral	None	None	None	None	N
Q/N	0.6023	likely_pathogenic	0.6368	pathogenic	-1.013	Destabilizing	0.999	D	0.567	neutral	None	None	None	None	N
Q/P	0.9143	likely_pathogenic	0.9084	pathogenic	0.336	Stabilizing	0.999	D	0.692	prob.neutral	D	0.54944927	None	None	N
Q/R	0.2286	likely_benign	0.1998	benign	-0.407	Destabilizing	0.997	D	0.454	neutral	N	0.508588814	None	None	N
Q/S	0.546	ambiguous	0.5629	ambiguous	-0.969	Destabilizing	0.997	D	0.417	neutral	None	None	None	None	N
Q/T	0.4194	ambiguous	0.43	ambiguous	-0.699	Destabilizing	0.999	D	0.626	neutral	None	None	None	None	N
Q/V	0.3979	ambiguous	0.3968	ambiguous	0.336	Stabilizing	0.999	D	0.617	neutral	None	None	None	None	N
Q/W	0.856	likely_pathogenic	0.8689	pathogenic	-0.155	Destabilizing	1.0	D	0.667	neutral	None	None	None	None	N
Q/Y	0.768	likely_pathogenic	0.7744	pathogenic	0.161	Stabilizing	0.999	D	0.694	prob.neutral	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.