TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15270	46033;46034;46035	chr2:178620802;178620801;178620800	chr2:179485529;179485528;179485527
N2AB	13629	41110;41111;41112	chr2:178620802;178620801;178620800	chr2:179485529;179485528;179485527
N2A	12702	38329;38330;38331	chr2:178620802;178620801;178620800	chr2:179485529;179485528;179485527
N2B	6205	18838;18839;18840	chr2:178620802;178620801;178620800	chr2:179485529;179485528;179485527
Novex-1	6330	19213;19214;19215	chr2:178620802;178620801;178620800	chr2:179485529;179485528;179485527
Novex-2	6397	19414;19415;19416	chr2:178620802;178620801;178620800	chr2:179485529;179485528;179485527
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAC
• RefSeq wild type template codon: GTG
• Domain: Ig-104
• Domain position: 63
• Structural Position: 145
• Q(SASA): 0.4911
• 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/P	None	None	0.065	N	0.401	0.157	0.0986583533028	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
H/A	0.2072	likely_benign	0.2113	benign	-0.034	Destabilizing	0.002	N	0.209	neutral	None	None	None	None	N
H/C	0.0918	likely_benign	0.0936	benign	0.672	Stabilizing	0.497	N	0.378	neutral	None	None	None	None	N
H/D	0.2154	likely_benign	0.2091	benign	-0.001	Destabilizing	0.003	N	0.27	neutral	N	0.444043277	None	None	N
H/E	0.2284	likely_benign	0.2133	benign	0.03	Stabilizing	None	N	0.08	neutral	None	None	None	None	N
H/F	0.2355	likely_benign	0.2344	benign	0.388	Stabilizing	0.085	N	0.369	neutral	None	None	None	None	N
H/G	0.1672	likely_benign	0.1536	benign	-0.334	Destabilizing	0.004	N	0.29	neutral	None	None	None	None	N
H/I	0.2891	likely_benign	0.2908	benign	0.745	Stabilizing	0.009	N	0.352	neutral	None	None	None	None	N
H/K	0.1137	likely_benign	0.1084	benign	0.03	Stabilizing	0.002	N	0.204	neutral	None	None	None	None	N
H/L	0.0999	likely_benign	0.0963	benign	0.745	Stabilizing	0.003	N	0.295	neutral	N	0.484499307	None	None	N
H/M	0.3451	ambiguous	0.3486	ambiguous	0.715	Stabilizing	0.245	N	0.393	neutral	None	None	None	None	N
H/N	0.1146	likely_benign	0.1207	benign	0.252	Stabilizing	None	N	0.091	neutral	N	0.475806543	None	None	N
H/P	0.4498	ambiguous	0.4478	ambiguous	0.51	Stabilizing	0.065	N	0.401	neutral	N	0.505557085	None	None	N
H/Q	0.0815	likely_benign	0.082	benign	0.351	Stabilizing	None	N	0.076	neutral	N	0.392629912	None	None	N
H/R	0.0484	likely_benign	0.0487	benign	-0.442	Destabilizing	None	N	0.108	neutral	N	0.437164887	None	None	N
H/S	0.1644	likely_benign	0.1662	benign	0.253	Stabilizing	0.004	N	0.22	neutral	None	None	None	None	N
H/T	0.2087	likely_benign	0.2063	benign	0.374	Stabilizing	0.008	N	0.287	neutral	None	None	None	None	N
H/V	0.225	likely_benign	0.2337	benign	0.51	Stabilizing	None	N	0.171	neutral	None	None	None	None	N
H/W	0.2077	likely_benign	0.2046	benign	0.365	Stabilizing	0.788	D	0.359	neutral	None	None	None	None	N
H/Y	0.1	likely_benign	0.1033	benign	0.759	Stabilizing	0.065	N	0.233	neutral	N	0.471583754	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.