TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29693	89302;89303;89304	chr2:178554034;178554033;178554032	chr2:179418761;179418760;179418759
N2AB	28052	84379;84380;84381	chr2:178554034;178554033;178554032	chr2:179418761;179418760;179418759
N2A	27125	81598;81599;81600	chr2:178554034;178554033;178554032	chr2:179418761;179418760;179418759
N2B	20628	62107;62108;62109	chr2:178554034;178554033;178554032	chr2:179418761;179418760;179418759
Novex-1	20753	62482;62483;62484	chr2:178554034;178554033;178554032	chr2:179418761;179418760;179418759
Novex-2	20820	62683;62684;62685	chr2:178554034;178554033;178554032	chr2:179418761;179418760;179418759
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: Fn3-104
• Domain position: 61
• Structural Position: 91
• Q(SASA): 0.263
• 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/H	rs778478943	-0.64	0.002	N	0.365	0.125	0.0806252709748	gnomAD-2.1.1	8.05E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	None	0	1.78E-05	0
Q/H	rs778478943	-0.64	0.002	N	0.365	0.125	0.0806252709748	gnomAD-4.0.0	4.77395E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.57383E-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	0.3516	ambiguous	0.3801	ambiguous	-0.335	Destabilizing	0.157	N	0.475	neutral	None	None	None	None	I
Q/C	0.543	ambiguous	0.5736	pathogenic	-0.133	Destabilizing	0.968	D	0.733	prob.delet.	None	None	None	None	I
Q/D	0.8438	likely_pathogenic	0.8886	pathogenic	-1.002	Destabilizing	0.157	N	0.407	neutral	None	None	None	None	I
Q/E	0.1623	likely_benign	0.2024	benign	-0.748	Destabilizing	0.001	N	0.184	neutral	N	0.443655756	None	None	I
Q/F	0.6769	likely_pathogenic	0.6959	pathogenic	-0.013	Destabilizing	0.726	D	0.695	prob.neutral	None	None	None	None	I
Q/G	0.5091	ambiguous	0.5987	pathogenic	-0.761	Destabilizing	0.272	N	0.527	neutral	None	None	None	None	I
Q/H	0.2912	likely_benign	0.3611	ambiguous	-0.284	Destabilizing	0.002	N	0.365	neutral	N	0.358114285	None	None	I
Q/I	0.4865	ambiguous	0.4908	ambiguous	0.802	Stabilizing	0.726	D	0.679	prob.neutral	None	None	None	None	I
Q/K	0.2211	likely_benign	0.2501	benign	0.103	Stabilizing	0.124	N	0.431	neutral	N	0.462241517	None	None	I
Q/L	0.1703	likely_benign	0.182	benign	0.802	Stabilizing	0.22	N	0.539	neutral	N	0.354148473	None	None	I
Q/M	0.376	ambiguous	0.3481	ambiguous	0.733	Stabilizing	0.89	D	0.483	neutral	None	None	None	None	I
Q/N	0.572	likely_pathogenic	0.6434	pathogenic	-0.972	Destabilizing	0.157	N	0.396	neutral	None	None	None	None	I
Q/P	0.8719	likely_pathogenic	0.9468	pathogenic	0.452	Stabilizing	0.667	D	0.537	neutral	N	0.480827278	None	None	I
Q/R	0.233	likely_benign	0.2766	benign	-0.067	Destabilizing	0.124	N	0.405	neutral	N	0.451024446	None	None	I
Q/S	0.4939	ambiguous	0.5271	ambiguous	-1.101	Destabilizing	0.157	N	0.398	neutral	None	None	None	None	I
Q/T	0.4328	ambiguous	0.4474	ambiguous	-0.632	Destabilizing	0.272	N	0.488	neutral	None	None	None	None	I
Q/V	0.3095	likely_benign	0.2978	benign	0.452	Stabilizing	0.567	D	0.565	neutral	None	None	None	None	I
Q/W	0.6817	likely_pathogenic	0.756	pathogenic	-0.046	Destabilizing	0.968	D	0.691	prob.neutral	None	None	None	None	I
Q/Y	0.4488	ambiguous	0.4988	ambiguous	0.39	Stabilizing	0.396	N	0.558	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.