TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9141	27646;27647;27648	chr2:178712501;178712500;178712499	chr2:179577228;179577227;179577226
N2AB	8824	26695;26696;26697	chr2:178712501;178712500;178712499	chr2:179577228;179577227;179577226
N2A	7897	23914;23915;23916	chr2:178712501;178712500;178712499	chr2:179577228;179577227;179577226
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: I
• RefSeq wild type transcript codon: ATT
• RefSeq wild type template codon: TAA
• Domain: Ig-77
• Domain position: 30
• Structural Position: 44
• Q(SASA): 0.1971
• 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
I/V	None	None	None	N	0.163	0.057	0.170165803431	gnomAD-4.0.0	1.59126E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85817E-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
I/A	0.6547	likely_pathogenic	0.7374	pathogenic	-2.092	Highly Destabilizing	0.157	N	0.525	neutral	None	None	None	None	N
I/C	0.8789	likely_pathogenic	0.9097	pathogenic	-1.553	Destabilizing	0.909	D	0.641	neutral	None	None	None	None	N
I/D	0.982	likely_pathogenic	0.9894	pathogenic	-1.607	Destabilizing	0.726	D	0.725	prob.delet.	None	None	None	None	N
I/E	0.9636	likely_pathogenic	0.9783	pathogenic	-1.482	Destabilizing	0.726	D	0.711	prob.delet.	None	None	None	None	N
I/F	0.5311	ambiguous	0.5284	ambiguous	-1.263	Destabilizing	0.002	N	0.307	neutral	N	0.486453252	None	None	N
I/G	0.9447	likely_pathogenic	0.9646	pathogenic	-2.546	Highly Destabilizing	0.726	D	0.688	prob.neutral	None	None	None	None	N
I/H	0.9498	likely_pathogenic	0.9632	pathogenic	-1.864	Destabilizing	0.968	D	0.711	prob.delet.	None	None	None	None	N
I/K	0.929	likely_pathogenic	0.9503	pathogenic	-1.477	Destabilizing	0.726	D	0.716	prob.delet.	None	None	None	None	N
I/L	0.2166	likely_benign	0.2063	benign	-0.847	Destabilizing	0.025	N	0.403	neutral	N	0.490553987	None	None	N
I/M	0.2809	likely_benign	0.2888	benign	-0.87	Destabilizing	0.497	N	0.557	neutral	N	0.494847043	None	None	N
I/N	0.7991	likely_pathogenic	0.8685	pathogenic	-1.509	Destabilizing	0.859	D	0.738	prob.delet.	N	0.506710327	None	None	N
I/P	0.795	likely_pathogenic	0.8808	pathogenic	-1.235	Destabilizing	0.89	D	0.737	prob.delet.	None	None	None	None	N
I/Q	0.9272	likely_pathogenic	0.9488	pathogenic	-1.511	Destabilizing	0.89	D	0.733	prob.delet.	None	None	None	None	N
I/R	0.888	likely_pathogenic	0.9189	pathogenic	-1.112	Destabilizing	0.726	D	0.737	prob.delet.	None	None	None	None	N
I/S	0.7599	likely_pathogenic	0.8417	pathogenic	-2.259	Highly Destabilizing	0.497	N	0.639	neutral	N	0.490074103	None	None	N
I/T	0.7096	likely_pathogenic	0.7656	pathogenic	-1.995	Destabilizing	0.124	N	0.609	neutral	N	0.497809557	None	None	N
I/V	0.0821	likely_benign	0.0785	benign	-1.235	Destabilizing	None	N	0.163	neutral	N	0.48472688	None	None	N
I/W	0.9854	likely_pathogenic	0.9852	pathogenic	-1.448	Destabilizing	0.968	D	0.717	prob.delet.	None	None	None	None	N
I/Y	0.9128	likely_pathogenic	0.9213	pathogenic	-1.184	Destabilizing	0.396	N	0.655	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.