TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19268	58027;58028;58029	chr2:178595552;178595551;178595550	chr2:179460279;179460278;179460277
N2AB	17627	53104;53105;53106	chr2:178595552;178595551;178595550	chr2:179460279;179460278;179460277
N2A	16700	50323;50324;50325	chr2:178595552;178595551;178595550	chr2:179460279;179460278;179460277
N2B	10203	30832;30833;30834	chr2:178595552;178595551;178595550	chr2:179460279;179460278;179460277
Novex-1	10328	31207;31208;31209	chr2:178595552;178595551;178595550	chr2:179460279;179460278;179460277
Novex-2	10395	31408;31409;31410	chr2:178595552;178595551;178595550	chr2:179460279;179460278;179460277
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCA
• RefSeq wild type template codon: GGT
• Domain: Fn3-27
• Domain position: 86
• Structural Position: 119
• Q(SASA): 0.3095
• 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
P/Q	None	None	1.0	N	0.829	0.439	0.524998368707	gnomAD-4.0.0	1.71411E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.07324E-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
P/A	0.1604	likely_benign	0.1565	benign	-1.047	Destabilizing	1.0	D	0.774	deleterious	N	0.510824898	None	None	N
P/C	0.5949	likely_pathogenic	0.6507	pathogenic	-0.57	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
P/D	0.5708	likely_pathogenic	0.5766	pathogenic	-0.664	Destabilizing	1.0	D	0.804	deleterious	None	None	None	None	N
P/E	0.4015	ambiguous	0.4197	ambiguous	-0.707	Destabilizing	1.0	D	0.806	deleterious	None	None	None	None	N
P/F	0.7123	likely_pathogenic	0.7657	pathogenic	-0.871	Destabilizing	1.0	D	0.797	deleterious	None	None	None	None	N
P/G	0.5428	ambiguous	0.5322	ambiguous	-1.298	Destabilizing	1.0	D	0.826	deleterious	None	None	None	None	N
P/H	0.3386	likely_benign	0.3682	ambiguous	-0.778	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
P/I	0.4296	ambiguous	0.4784	ambiguous	-0.488	Destabilizing	1.0	D	0.841	deleterious	None	None	None	None	N
P/K	0.4196	ambiguous	0.4633	ambiguous	-0.787	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
P/L	0.2222	likely_benign	0.2419	benign	-0.488	Destabilizing	1.0	D	0.818	deleterious	N	0.520657889	None	None	N
P/M	0.4917	ambiguous	0.5176	ambiguous	-0.404	Destabilizing	1.0	D	0.802	deleterious	None	None	None	None	N
P/N	0.4644	ambiguous	0.4686	ambiguous	-0.471	Destabilizing	1.0	D	0.857	deleterious	None	None	None	None	N
P/Q	0.2687	likely_benign	0.2764	benign	-0.675	Destabilizing	1.0	D	0.829	deleterious	N	0.50776595	None	None	N
P/R	0.2729	likely_benign	0.3099	benign	-0.262	Destabilizing	1.0	D	0.859	deleterious	N	0.472017576	None	None	N
P/S	0.2512	likely_benign	0.2467	benign	-0.931	Destabilizing	1.0	D	0.8	deleterious	N	0.478449584	None	None	N
P/T	0.2164	likely_benign	0.2196	benign	-0.869	Destabilizing	1.0	D	0.805	deleterious	N	0.478449584	None	None	N
P/V	0.2942	likely_benign	0.3214	benign	-0.639	Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	N
P/W	0.8327	likely_pathogenic	0.8712	pathogenic	-0.995	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
P/Y	0.649	likely_pathogenic	0.7121	pathogenic	-0.713	Destabilizing	1.0	D	0.813	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.