TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18834	56725;56726;56727	chr2:178599293;178599292;178599291	chr2:179464020;179464019;179464018
N2AB	17193	51802;51803;51804	chr2:178599293;178599292;178599291	chr2:179464020;179464019;179464018
N2A	16266	49021;49022;49023	chr2:178599293;178599292;178599291	chr2:179464020;179464019;179464018
N2B	9769	29530;29531;29532	chr2:178599293;178599292;178599291	chr2:179464020;179464019;179464018
Novex-1	9894	29905;29906;29907	chr2:178599293;178599292;178599291	chr2:179464020;179464019;179464018
Novex-2	9961	30106;30107;30108	chr2:178599293;178599292;178599291	chr2:179464020;179464019;179464018
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Fn3-24
• Domain position: 51
• Structural Position: 67
• Q(SASA): 0.6124
• 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
H/N	None	None	0.024	N	0.357	0.128	0.263612267334	gnomAD-4.0.0	1.60852E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.8776E-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
H/A	0.1719	likely_benign	0.1461	benign	-0.232	Destabilizing	0.016	N	0.387	neutral	None	None	None	None	N
H/C	0.1061	likely_benign	0.0985	benign	0.269	Stabilizing	0.864	D	0.466	neutral	None	None	None	None	N
H/D	0.2854	likely_benign	0.2252	benign	-0.198	Destabilizing	0.055	N	0.484	neutral	N	0.431131963	None	None	N
H/E	0.2477	likely_benign	0.2067	benign	-0.161	Destabilizing	0.016	N	0.362	neutral	None	None	None	None	N
H/F	0.2494	likely_benign	0.2135	benign	0.55	Stabilizing	0.356	N	0.502	neutral	None	None	None	None	N
H/G	0.2168	likely_benign	0.193	benign	-0.526	Destabilizing	0.016	N	0.463	neutral	None	None	None	None	N
H/I	0.25	likely_benign	0.1984	benign	0.533	Stabilizing	0.356	N	0.529	neutral	None	None	None	None	N
H/K	0.1595	likely_benign	0.1601	benign	-0.349	Destabilizing	0.016	N	0.448	neutral	None	None	None	None	N
H/L	0.0913	likely_benign	0.0789	benign	0.533	Stabilizing	0.055	N	0.499	neutral	N	0.426707578	None	None	N
H/M	0.3063	likely_benign	0.267	benign	0.37	Stabilizing	0.628	D	0.483	neutral	None	None	None	None	N
H/N	0.1337	likely_benign	0.1155	benign	-0.356	Destabilizing	0.024	N	0.357	neutral	N	0.430785246	None	None	N
H/P	0.0797	likely_benign	0.0735	benign	0.302	Stabilizing	None	N	0.26	neutral	N	0.375817398	None	None	N
H/Q	0.112	likely_benign	0.1157	benign	-0.222	Destabilizing	0.055	N	0.347	neutral	N	0.419568175	None	None	N
H/R	0.0606	likely_benign	0.0703	benign	-0.826	Destabilizing	None	N	0.159	neutral	N	0.420645611	None	None	N
H/S	0.1817	likely_benign	0.1556	benign	-0.323	Destabilizing	None	N	0.217	neutral	None	None	None	None	N
H/T	0.1764	likely_benign	0.1527	benign	-0.189	Destabilizing	0.016	N	0.486	neutral	None	None	None	None	N
H/V	0.1904	likely_benign	0.1575	benign	0.302	Stabilizing	0.072	N	0.511	neutral	None	None	None	None	N
H/W	0.2435	likely_benign	0.2339	benign	0.654	Stabilizing	0.864	D	0.492	neutral	None	None	None	None	N
H/Y	0.1011	likely_benign	0.0836	benign	0.864	Stabilizing	0.106	N	0.406	neutral	N	0.443234469	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.