TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5057	15394;15395;15396	chr2:178734755;178734754;178734753	chr2:179599482;179599481;179599480
N2AB	4740	14443;14444;14445	chr2:178734755;178734754;178734753	chr2:179599482;179599481;179599480
N2A	3813	11662;11663;11664	chr2:178734755;178734754;178734753	chr2:179599482;179599481;179599480
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: V
• RefSeq wild type transcript codon: GTG
• RefSeq wild type template codon: CAC
• Domain: Ig-33
• Domain position: 77
• Structural Position: 159
• Q(SASA): 0.2995
• Predicted PPI site: I

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
V/L	None	None	None	N	0.097	0.116	0.304108284078	gnomAD-4.0.0	1.5924E-06	None	None	None	None	I	None	0	0	None	0	0	None	1.88274E-05	0	0	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
V/A	0.0898	likely_benign	0.0918	benign	-1.252	Destabilizing	None	N	0.111	neutral	N	0.486662767	None	None	I
V/C	0.5114	ambiguous	0.5341	ambiguous	-1.03	Destabilizing	0.356	N	0.469	neutral	None	None	None	None	I
V/D	0.2302	likely_benign	0.2425	benign	-1.114	Destabilizing	0.072	N	0.568	neutral	None	None	None	None	I
V/E	0.1361	likely_benign	0.1566	benign	-1.182	Destabilizing	0.012	N	0.47	neutral	N	0.440604188	None	None	I
V/F	0.1052	likely_benign	0.1038	benign	-1.239	Destabilizing	0.072	N	0.492	neutral	None	None	None	None	I
V/G	0.1296	likely_benign	0.1384	benign	-1.478	Destabilizing	0.012	N	0.533	neutral	N	0.501585557	None	None	I
V/H	0.2535	likely_benign	0.2782	benign	-0.932	Destabilizing	0.356	N	0.551	neutral	None	None	None	None	I
V/I	0.0669	likely_benign	0.0654	benign	-0.764	Destabilizing	None	N	0.117	neutral	None	None	None	None	I
V/K	0.1188	likely_benign	0.1271	benign	-0.927	Destabilizing	0.016	N	0.477	neutral	None	None	None	None	I
V/L	0.1033	likely_benign	0.1056	benign	-0.764	Destabilizing	None	N	0.097	neutral	N	0.465624341	None	None	I
V/M	0.0665	likely_benign	0.0719	benign	-0.596	Destabilizing	0.005	N	0.251	neutral	N	0.510265694	None	None	I
V/N	0.137	likely_benign	0.14	benign	-0.694	Destabilizing	0.072	N	0.569	neutral	None	None	None	None	I
V/P	0.8658	likely_pathogenic	0.8774	pathogenic	-0.892	Destabilizing	0.136	N	0.585	neutral	None	None	None	None	I
V/Q	0.1176	likely_benign	0.1361	benign	-0.991	Destabilizing	0.003	N	0.367	neutral	None	None	None	None	I
V/R	0.1023	likely_benign	0.1168	benign	-0.337	Destabilizing	0.072	N	0.595	neutral	None	None	None	None	I
V/S	0.0927	likely_benign	0.0969	benign	-1.165	Destabilizing	0.001	N	0.215	neutral	None	None	None	None	I
V/T	0.067	likely_benign	0.0751	benign	-1.133	Destabilizing	None	N	0.113	neutral	None	None	None	None	I
V/W	0.489	ambiguous	0.5369	ambiguous	-1.288	Destabilizing	0.864	D	0.537	neutral	None	None	None	None	I
V/Y	0.3005	likely_benign	0.3077	benign	-1.004	Destabilizing	0.356	N	0.483	neutral	None	None	None	None	I

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.