TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30621	92086;92087;92088	chr2:178549861;178549860;178549859	chr2:179414588;179414587;179414586
N2AB	28980	87163;87164;87165	chr2:178549861;178549860;178549859	chr2:179414588;179414587;179414586
N2A	28053	84382;84383;84384	chr2:178549861;178549860;178549859	chr2:179414588;179414587;179414586
N2B	21556	64891;64892;64893	chr2:178549861;178549860;178549859	chr2:179414588;179414587;179414586
Novex-1	21681	65266;65267;65268	chr2:178549861;178549860;178549859	chr2:179414588;179414587;179414586
Novex-2	21748	65467;65468;65469	chr2:178549861;178549860;178549859	chr2:179414588;179414587;179414586
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Fn3-111
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.1551
• 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
G/E	None	None	1.0	N	0.897	0.557	0.517268597351	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
G/A	0.3143	likely_benign	0.3204	benign	-0.835	Destabilizing	0.999	D	0.773	deleterious	N	0.490434091	None	None	N
G/C	0.622	likely_pathogenic	0.6149	pathogenic	-1.204	Destabilizing	1.0	D	0.812	deleterious	None	None	None	None	N
G/D	0.6144	likely_pathogenic	0.6619	pathogenic	-1.463	Destabilizing	1.0	D	0.881	deleterious	None	None	None	None	N
G/E	0.6194	likely_pathogenic	0.6762	pathogenic	-1.546	Destabilizing	1.0	D	0.897	deleterious	N	0.496497251	None	None	N
G/F	0.9404	likely_pathogenic	0.9526	pathogenic	-1.301	Destabilizing	1.0	D	0.822	deleterious	None	None	None	None	N
G/H	0.8935	likely_pathogenic	0.8961	pathogenic	-1.266	Destabilizing	1.0	D	0.8	deleterious	None	None	None	None	N
G/I	0.8875	likely_pathogenic	0.8972	pathogenic	-0.583	Destabilizing	1.0	D	0.836	deleterious	None	None	None	None	N
G/K	0.9118	likely_pathogenic	0.9221	pathogenic	-1.239	Destabilizing	1.0	D	0.895	deleterious	None	None	None	None	N
G/L	0.8312	likely_pathogenic	0.8462	pathogenic	-0.583	Destabilizing	1.0	D	0.827	deleterious	None	None	None	None	N
G/M	0.8803	likely_pathogenic	0.8843	pathogenic	-0.532	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	N
G/N	0.7049	likely_pathogenic	0.696	pathogenic	-0.966	Destabilizing	1.0	D	0.825	deleterious	None	None	None	None	N
G/P	0.9847	likely_pathogenic	0.9901	pathogenic	-0.63	Destabilizing	1.0	D	0.871	deleterious	None	None	None	None	N
G/Q	0.7353	likely_pathogenic	0.7508	pathogenic	-1.236	Destabilizing	1.0	D	0.873	deleterious	None	None	None	None	N
G/R	0.8216	likely_pathogenic	0.8455	pathogenic	-0.87	Destabilizing	1.0	D	0.889	deleterious	N	0.517439116	None	None	N
G/S	0.1869	likely_benign	0.1806	benign	-1.19	Destabilizing	1.0	D	0.837	deleterious	None	None	None	None	N
G/T	0.5691	likely_pathogenic	0.5648	pathogenic	-1.204	Destabilizing	1.0	D	0.897	deleterious	None	None	None	None	N
G/V	0.7792	likely_pathogenic	0.7998	pathogenic	-0.63	Destabilizing	1.0	D	0.859	deleterious	D	0.52980938	None	None	N
G/W	0.8797	likely_pathogenic	0.9049	pathogenic	-1.542	Destabilizing	1.0	D	0.834	deleterious	None	None	None	None	N
G/Y	0.8944	likely_pathogenic	0.9114	pathogenic	-1.165	Destabilizing	1.0	D	0.823	deleterious	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.