TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26495	79708;79709;79710	chr2:178566649;178566648;178566647	chr2:179431376;179431375;179431374
N2AB	24854	74785;74786;74787	chr2:178566649;178566648;178566647	chr2:179431376;179431375;179431374
N2A	23927	72004;72005;72006	chr2:178566649;178566648;178566647	chr2:179431376;179431375;179431374
N2B	17430	52513;52514;52515	chr2:178566649;178566648;178566647	chr2:179431376;179431375;179431374
Novex-1	17555	52888;52889;52890	chr2:178566649;178566648;178566647	chr2:179431376;179431375;179431374
Novex-2	17622	53089;53090;53091	chr2:178566649;178566648;178566647	chr2:179431376;179431375;179431374
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: Fn3-81
• Domain position: 9
• Structural Position: 11
• Q(SASA): 0.4645
• 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/R	None	None	0.521	N	0.408	0.274	0.141422826196	gnomAD-4.0.0	1.5932E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85894E-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	0.2578	likely_benign	0.2532	benign	-0.346	Destabilizing	0.59	D	0.507	neutral	None	None	None	None	N
H/C	0.1325	likely_benign	0.1329	benign	0.357	Stabilizing	0.996	D	0.643	neutral	None	None	None	None	N
H/D	0.3489	ambiguous	0.3458	ambiguous	-0.314	Destabilizing	0.684	D	0.509	neutral	N	0.46947692	None	None	N
H/E	0.3313	likely_benign	0.3268	benign	-0.233	Destabilizing	0.373	N	0.425	neutral	None	None	None	None	N
H/F	0.2489	likely_benign	0.2527	benign	0.753	Stabilizing	0.835	D	0.569	neutral	None	None	None	None	N
H/G	0.3252	likely_benign	0.3107	benign	-0.702	Destabilizing	0.742	D	0.54	neutral	None	None	None	None	N
H/I	0.2281	likely_benign	0.2332	benign	0.616	Stabilizing	0.953	D	0.624	neutral	None	None	None	None	N
H/K	0.2196	likely_benign	0.2261	benign	-0.316	Destabilizing	0.009	N	0.32	neutral	None	None	None	None	N
H/L	0.1223	likely_benign	0.1268	benign	0.616	Stabilizing	0.684	D	0.538	neutral	N	0.467572766	None	None	N
H/M	0.3785	ambiguous	0.3937	ambiguous	0.424	Stabilizing	0.984	D	0.599	neutral	None	None	None	None	N
H/N	0.1046	likely_benign	0.1006	benign	-0.406	Destabilizing	0.684	D	0.415	neutral	N	0.438057935	None	None	N
H/P	0.5418	ambiguous	0.5243	ambiguous	0.319	Stabilizing	0.939	D	0.606	neutral	N	0.479867272	None	None	N
H/Q	0.1422	likely_benign	0.1385	benign	-0.179	Destabilizing	0.078	N	0.313	neutral	N	0.434246839	None	None	N
H/R	0.0936	likely_benign	0.0904	benign	-0.938	Destabilizing	0.521	D	0.408	neutral	N	0.358653002	None	None	N
H/S	0.2085	likely_benign	0.1989	benign	-0.351	Destabilizing	0.742	D	0.469	neutral	None	None	None	None	N
H/T	0.2048	likely_benign	0.2052	benign	-0.164	Destabilizing	0.742	D	0.587	neutral	None	None	None	None	N
H/V	0.1788	likely_benign	0.1868	benign	0.319	Stabilizing	0.742	D	0.593	neutral	None	None	None	None	N
H/W	0.3956	ambiguous	0.4165	ambiguous	0.948	Stabilizing	0.996	D	0.599	neutral	None	None	None	None	N
H/Y	0.096	likely_benign	0.0948	benign	1.087	Stabilizing	0.028	N	0.271	neutral	N	0.476365607	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.