TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30593	92002;92003;92004	chr2:178550061;178550060;178550059	chr2:179414788;179414787;179414786
N2AB	28952	87079;87080;87081	chr2:178550061;178550060;178550059	chr2:179414788;179414787;179414786
N2A	28025	84298;84299;84300	chr2:178550061;178550060;178550059	chr2:179414788;179414787;179414786
N2B	21528	64807;64808;64809	chr2:178550061;178550060;178550059	chr2:179414788;179414787;179414786
Novex-1	21653	65182;65183;65184	chr2:178550061;178550060;178550059	chr2:179414788;179414787;179414786
Novex-2	21720	65383;65384;65385	chr2:178550061;178550060;178550059	chr2:179414788;179414787;179414786
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Ig-149
• Domain position: 62
• Structural Position: 149
• Q(SASA): 0.2185
• 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
H/Y	None	None	0.999	N	0.669	0.423	0.451504584351	gnomAD-4.0.0	1.59135E-06	None	None	None	None	N	None	0	0	None	0	2.77316E-05	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
H/A	0.5567	ambiguous	0.566	pathogenic	-0.943	Destabilizing	0.999	D	0.782	deleterious	None	None	None	None	N
H/C	0.2886	likely_benign	0.2924	benign	-0.081	Destabilizing	1.0	D	0.837	deleterious	None	None	None	None	N
H/D	0.1323	likely_benign	0.1351	benign	-0.85	Destabilizing	1.0	D	0.776	deleterious	N	0.3163898	None	None	N
H/E	0.5305	ambiguous	0.5524	ambiguous	-0.714	Destabilizing	0.999	D	0.648	neutral	None	None	None	None	N
H/F	0.5394	ambiguous	0.5424	ambiguous	0.566	Stabilizing	1.0	D	0.789	deleterious	None	None	None	None	N
H/G	0.6142	likely_pathogenic	0.6205	pathogenic	-1.359	Destabilizing	0.999	D	0.796	deleterious	None	None	None	None	N
H/I	0.6128	likely_pathogenic	0.6242	pathogenic	0.234	Stabilizing	1.0	D	0.841	deleterious	None	None	None	None	N
H/K	0.8124	likely_pathogenic	0.8232	pathogenic	-0.587	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
H/L	0.3301	likely_benign	0.3459	ambiguous	0.234	Stabilizing	1.0	D	0.839	deleterious	N	0.494744911	None	None	N
H/M	0.5933	likely_pathogenic	0.5951	pathogenic	0.029	Stabilizing	1.0	D	0.829	deleterious	None	None	None	None	N
H/N	0.0679	likely_benign	0.0723	benign	-0.872	Destabilizing	0.999	D	0.66	neutral	N	0.511988052	None	None	N
H/P	0.8206	likely_pathogenic	0.8026	pathogenic	-0.14	Destabilizing	1.0	D	0.841	deleterious	N	0.505847727	None	None	N
H/Q	0.3483	ambiguous	0.3528	ambiguous	-0.568	Destabilizing	1.0	D	0.786	deleterious	N	0.508006384	None	None	N
H/R	0.7088	likely_pathogenic	0.7282	pathogenic	-1.239	Destabilizing	1.0	D	0.785	deleterious	D	0.532134037	None	None	N
H/S	0.2634	likely_benign	0.2631	benign	-0.87	Destabilizing	1.0	D	0.757	deleterious	None	None	None	None	N
H/T	0.4704	ambiguous	0.4822	ambiguous	-0.609	Destabilizing	1.0	D	0.836	deleterious	None	None	None	None	N
H/V	0.57	likely_pathogenic	0.5831	pathogenic	-0.14	Destabilizing	1.0	D	0.849	deleterious	None	None	None	None	N
H/W	0.7788	likely_pathogenic	0.7845	pathogenic	0.953	Stabilizing	1.0	D	0.822	deleterious	None	None	None	None	N
H/Y	0.2076	likely_benign	0.2159	benign	0.906	Stabilizing	0.999	D	0.669	neutral	N	0.487743472	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.