TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30783	92572;92573;92574	chr2:178549279;178549278;178549277	chr2:179414006;179414005;179414004
N2AB	29142	87649;87650;87651	chr2:178549279;178549278;178549277	chr2:179414006;179414005;179414004
N2A	28215	84868;84869;84870	chr2:178549279;178549278;178549277	chr2:179414006;179414005;179414004
N2B	21718	65377;65378;65379	chr2:178549279;178549278;178549277	chr2:179414006;179414005;179414004
Novex-1	21843	65752;65753;65754	chr2:178549279;178549278;178549277	chr2:179414006;179414005;179414004
Novex-2	21910	65953;65954;65955	chr2:178549279;178549278;178549277	chr2:179414006;179414005;179414004
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Fn3-112
• Domain position: 65
• Structural Position: 94
• Q(SASA): 0.4807
• 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
T/P	None	None	0.971	N	0.676	0.407	0.385578977469	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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
T/A	0.0988	likely_benign	0.1022	benign	-0.529	Destabilizing	0.489	N	0.421	neutral	N	0.480424593	None	None	N
T/C	0.4112	ambiguous	0.4531	ambiguous	-0.341	Destabilizing	0.998	D	0.666	neutral	None	None	None	None	N
T/D	0.5388	ambiguous	0.56	ambiguous	0.406	Stabilizing	0.956	D	0.634	neutral	None	None	None	None	N
T/E	0.4851	ambiguous	0.4911	ambiguous	0.34	Stabilizing	0.956	D	0.626	neutral	None	None	None	None	N
T/F	0.2965	likely_benign	0.3313	benign	-0.999	Destabilizing	0.978	D	0.707	prob.neutral	None	None	None	None	N
T/G	0.2239	likely_benign	0.245	benign	-0.665	Destabilizing	0.754	D	0.59	neutral	None	None	None	None	N
T/H	0.3412	ambiguous	0.3521	ambiguous	-0.917	Destabilizing	0.994	D	0.698	prob.neutral	None	None	None	None	N
T/I	0.2297	likely_benign	0.2514	benign	-0.286	Destabilizing	0.126	N	0.371	neutral	N	0.498644207	None	None	N
T/K	0.3712	ambiguous	0.3572	ambiguous	-0.327	Destabilizing	0.915	D	0.632	neutral	None	None	None	None	N
T/L	0.1123	likely_benign	0.1232	benign	-0.286	Destabilizing	0.754	D	0.49	neutral	None	None	None	None	N
T/M	0.0951	likely_benign	0.1015	benign	-0.082	Destabilizing	0.994	D	0.667	neutral	None	None	None	None	N
T/N	0.1369	likely_benign	0.1442	benign	-0.147	Destabilizing	0.89	D	0.507	neutral	N	0.490931525	None	None	N
T/P	0.13	likely_benign	0.1289	benign	-0.339	Destabilizing	0.971	D	0.676	prob.neutral	N	0.484032218	None	None	N
T/Q	0.3021	likely_benign	0.304	benign	-0.356	Destabilizing	0.956	D	0.679	prob.neutral	None	None	None	None	N
T/R	0.3363	likely_benign	0.3243	benign	-0.078	Destabilizing	0.956	D	0.674	neutral	None	None	None	None	N
T/S	0.1069	likely_benign	0.1136	benign	-0.433	Destabilizing	0.058	N	0.491	neutral	N	0.474864097	None	None	N
T/V	0.1656	likely_benign	0.1829	benign	-0.339	Destabilizing	0.754	D	0.42	neutral	None	None	None	None	N
T/W	0.6277	likely_pathogenic	0.6274	pathogenic	-0.961	Destabilizing	0.998	D	0.655	neutral	None	None	None	None	N
T/Y	0.3543	ambiguous	0.3685	ambiguous	-0.687	Destabilizing	0.993	D	0.713	prob.delet.	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.