TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23387	70384;70385;70386	chr2:178575973;178575972;178575971	chr2:179440700;179440699;179440698
N2AB	21746	65461;65462;65463	chr2:178575973;178575972;178575971	chr2:179440700;179440699;179440698
N2A	20819	62680;62681;62682	chr2:178575973;178575972;178575971	chr2:179440700;179440699;179440698
N2B	14322	43189;43190;43191	chr2:178575973;178575972;178575971	chr2:179440700;179440699;179440698
Novex-1	14447	43564;43565;43566	chr2:178575973;178575972;178575971	chr2:179440700;179440699;179440698
Novex-2	14514	43765;43766;43767	chr2:178575973;178575972;178575971	chr2:179440700;179440699;179440698
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-129
• Domain position: 43
• Structural Position: 70
• Q(SASA): 0.7881
• 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
N/K	None	None	None	N	0.187	0.139	0.119812018005	gnomAD-4.0.0	4.79114E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	4.30256E-05	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
N/A	0.109	likely_benign	0.1136	benign	-0.05	Destabilizing	None	N	0.181	neutral	None	None	None	None	N
N/C	0.1708	likely_benign	0.1872	benign	0.222	Stabilizing	0.245	N	0.299	neutral	None	None	None	None	N
N/D	0.1073	likely_benign	0.1095	benign	0.091	Stabilizing	0.014	N	0.238	neutral	N	0.409479759	None	None	N
N/E	0.1762	likely_benign	0.1905	benign	0.029	Stabilizing	0.004	N	0.207	neutral	None	None	None	None	N
N/F	0.3208	likely_benign	0.3477	ambiguous	-0.651	Destabilizing	0.044	N	0.438	neutral	None	None	None	None	N
N/G	0.1299	likely_benign	0.151	benign	-0.146	Destabilizing	None	N	0.132	neutral	None	None	None	None	N
N/H	0.0844	likely_benign	0.093	benign	-0.196	Destabilizing	None	N	0.233	neutral	N	0.496002666	None	None	N
N/I	0.1388	likely_benign	0.1495	benign	0.101	Stabilizing	None	N	0.249	neutral	D	0.525458781	None	None	N
N/K	0.1691	likely_benign	0.1963	benign	0.135	Stabilizing	None	N	0.187	neutral	N	0.423331704	None	None	N
N/L	0.137	likely_benign	0.1468	benign	0.101	Stabilizing	0.004	N	0.316	neutral	None	None	None	None	N
N/M	0.1817	likely_benign	0.1885	benign	0.168	Stabilizing	0.138	N	0.327	neutral	None	None	None	None	N
N/P	0.2293	likely_benign	0.2749	benign	0.074	Stabilizing	0.085	N	0.429	neutral	None	None	None	None	N
N/Q	0.1508	likely_benign	0.1681	benign	-0.204	Destabilizing	0.001	N	0.238	neutral	None	None	None	None	N
N/R	0.1998	likely_benign	0.2423	benign	0.184	Stabilizing	0.009	N	0.28	neutral	None	None	None	None	N
N/S	0.0696	likely_benign	0.0706	benign	0.024	Stabilizing	None	N	0.163	neutral	N	0.437066219	None	None	N
N/T	0.0759	likely_benign	0.0769	benign	0.072	Stabilizing	None	N	0.125	neutral	N	0.43553021	None	None	N
N/V	0.1248	likely_benign	0.1382	benign	0.074	Stabilizing	None	N	0.219	neutral	None	None	None	None	N
N/W	0.5047	ambiguous	0.5581	ambiguous	-0.795	Destabilizing	0.788	D	0.291	neutral	None	None	None	None	N
N/Y	0.1129	likely_benign	0.1188	benign	-0.462	Destabilizing	0.017	N	0.429	neutral	N	0.506950378	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.