TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8613	26062;26063;26064	chr2:178715577;178715576;178715575	chr2:179580304;179580303;179580302
N2AB	8296	25111;25112;25113	chr2:178715577;178715576;178715575	chr2:179580304;179580303;179580302
N2A	7369	22330;22331;22332	chr2:178715577;178715576;178715575	chr2:179580304;179580303;179580302
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: S
• RefSeq wild type transcript codon: AGT
• RefSeq wild type template codon: TCA
• Domain: Ig-71
• Domain position: 65
• Structural Position: 145
• Q(SASA): 0.3282
• 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
S/R	None	None	0.023	N	0.251	0.069	0.0716867268079	gnomAD-4.0.0	6.84264E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99543E-07	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
S/A	0.087	likely_benign	0.0803	benign	-0.564	Destabilizing	None	N	0.139	neutral	None	None	None	None	N
S/C	0.1212	likely_benign	0.116	benign	-0.593	Destabilizing	0.951	D	0.411	neutral	D	0.52434406	None	None	N
S/D	0.1879	likely_benign	0.1941	benign	-0.979	Destabilizing	0.042	N	0.282	neutral	None	None	None	None	N
S/E	0.3035	likely_benign	0.3053	benign	-0.991	Destabilizing	0.048	N	0.288	neutral	None	None	None	None	N
S/F	0.2568	likely_benign	0.2305	benign	-0.875	Destabilizing	0.962	D	0.454	neutral	None	None	None	None	N
S/G	0.072	likely_benign	0.0731	benign	-0.783	Destabilizing	None	N	0.119	neutral	N	0.47849434	None	None	N
S/H	0.179	likely_benign	0.1873	benign	-1.32	Destabilizing	0.746	D	0.425	neutral	None	None	None	None	N
S/I	0.1586	likely_benign	0.1546	benign	-0.094	Destabilizing	0.904	D	0.472	neutral	D	0.534771698	None	None	N
S/K	0.2593	likely_benign	0.2724	benign	-0.772	Destabilizing	0.119	N	0.2	neutral	None	None	None	None	N
S/L	0.1082	likely_benign	0.0993	benign	-0.094	Destabilizing	0.64	D	0.445	neutral	None	None	None	None	N
S/M	0.1769	likely_benign	0.169	benign	0.273	Stabilizing	0.962	D	0.423	neutral	None	None	None	None	N
S/N	0.0901	likely_benign	0.0916	benign	-0.847	Destabilizing	None	N	0.192	neutral	D	0.525842783	None	None	N
S/P	0.5371	ambiguous	0.4602	ambiguous	-0.218	Destabilizing	0.15	N	0.456	neutral	None	None	None	None	N
S/Q	0.2425	likely_benign	0.2584	benign	-1.106	Destabilizing	0.246	N	0.348	neutral	None	None	None	None	N
S/R	0.1999	likely_benign	0.2082	benign	-0.557	Destabilizing	0.023	N	0.251	neutral	N	0.50275528	None	None	N
S/T	0.0714	likely_benign	0.0711	benign	-0.776	Destabilizing	None	N	0.177	neutral	N	0.450248947	None	None	N
S/V	0.1763	likely_benign	0.1642	benign	-0.218	Destabilizing	0.4	N	0.471	neutral	None	None	None	None	N
S/W	0.3161	likely_benign	0.3036	benign	-0.893	Destabilizing	0.997	D	0.477	neutral	None	None	None	None	N
S/Y	0.1988	likely_benign	0.188	benign	-0.591	Destabilizing	0.948	D	0.455	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.