TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17626	53101;53102;53103	chr2:178607911;178607910;178607909	chr2:179472638;179472637;179472636
N2AB	15985	48178;48179;48180	chr2:178607911;178607910;178607909	chr2:179472638;179472637;179472636
N2A	15058	45397;45398;45399	chr2:178607911;178607910;178607909	chr2:179472638;179472637;179472636
N2B	8561	25906;25907;25908	chr2:178607911;178607910;178607909	chr2:179472638;179472637;179472636
Novex-1	8686	26281;26282;26283	chr2:178607911;178607910;178607909	chr2:179472638;179472637;179472636
Novex-2	8753	26482;26483;26484	chr2:178607911;178607910;178607909	chr2:179472638;179472637;179472636
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: V
• RefSeq wild type transcript codon: GTC
• RefSeq wild type template codon: CAG
• Domain: Fn3-16
• Domain position: 58
• Structural Position: 88
• Q(SASA): 0.3736
• 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
V/I	None	None	None	N	0.159	0.156	0.350088858571	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
V/A	0.1005	likely_benign	0.092	benign	-1.038	Destabilizing	None	N	0.091	neutral	N	0.428051585	None	None	N
V/C	0.5013	ambiguous	0.459	ambiguous	-0.899	Destabilizing	0.356	N	0.311	neutral	None	None	None	None	N
V/D	0.1483	likely_benign	0.1245	benign	-1.124	Destabilizing	0.029	N	0.374	neutral	N	0.369253998	None	None	N
V/E	0.1364	likely_benign	0.1245	benign	-1.103	Destabilizing	0.072	N	0.312	neutral	None	None	None	None	N
V/F	0.1396	likely_benign	0.1161	benign	-0.779	Destabilizing	0.171	N	0.357	neutral	N	0.459451928	None	None	N
V/G	0.1044	likely_benign	0.0967	benign	-1.293	Destabilizing	0.012	N	0.333	neutral	N	0.409812541	None	None	N
V/H	0.3163	likely_benign	0.2744	benign	-0.532	Destabilizing	0.356	N	0.372	neutral	None	None	None	None	N
V/I	0.0816	likely_benign	0.0766	benign	-0.433	Destabilizing	None	N	0.159	neutral	N	0.442578321	None	None	N
V/K	0.1691	likely_benign	0.1585	benign	-0.907	Destabilizing	0.072	N	0.335	neutral	None	None	None	None	N
V/L	0.1312	likely_benign	0.1284	benign	-0.433	Destabilizing	0.012	N	0.236	neutral	N	0.453352675	None	None	N
V/M	0.1213	likely_benign	0.1111	benign	-0.671	Destabilizing	0.356	N	0.339	neutral	None	None	None	None	N
V/N	0.1039	likely_benign	0.0868	benign	-0.942	Destabilizing	0.001	N	0.307	neutral	None	None	None	None	N
V/P	0.277	likely_benign	0.3515	ambiguous	-0.604	Destabilizing	None	N	0.218	neutral	None	None	None	None	N
V/Q	0.1604	likely_benign	0.1542	benign	-1.049	Destabilizing	0.356	N	0.415	neutral	None	None	None	None	N
V/R	0.1777	likely_benign	0.1639	benign	-0.424	Destabilizing	0.214	N	0.439	neutral	None	None	None	None	N
V/S	0.0987	likely_benign	0.0892	benign	-1.336	Destabilizing	0.003	N	0.279	neutral	None	None	None	None	N
V/T	0.1086	likely_benign	0.0961	benign	-1.202	Destabilizing	None	N	0.099	neutral	None	None	None	None	N
V/W	0.6494	likely_pathogenic	0.5895	pathogenic	-0.929	Destabilizing	0.864	D	0.405	neutral	None	None	None	None	N
V/Y	0.3205	likely_benign	0.2774	benign	-0.625	Destabilizing	0.356	N	0.328	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.