TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23119	69580;69581;69582	chr2:178576980;178576979;178576978	chr2:179441707;179441706;179441705
N2AB	21478	64657;64658;64659	chr2:178576980;178576979;178576978	chr2:179441707;179441706;179441705
N2A	20551	61876;61877;61878	chr2:178576980;178576979;178576978	chr2:179441707;179441706;179441705
N2B	14054	42385;42386;42387	chr2:178576980;178576979;178576978	chr2:179441707;179441706;179441705
Novex-1	14179	42760;42761;42762	chr2:178576980;178576979;178576978	chr2:179441707;179441706;179441705
Novex-2	14246	42961;42962;42963	chr2:178576980;178576979;178576978	chr2:179441707;179441706;179441705
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: Fn3-55
• Domain position: 80
• Structural Position: 113
• Q(SASA): 0.875
• 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
H/R	None	None	0.012	N	0.244	0.251	0.171388866994	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	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	0.1107	likely_benign	0.0929	benign	0.288	Stabilizing	0.007	N	0.359	neutral	None	None	None	None	I
H/C	0.1276	likely_benign	0.1175	benign	0.445	Stabilizing	0.864	D	0.356	neutral	None	None	None	None	I
H/D	0.1144	likely_benign	0.1157	benign	-0.235	Destabilizing	0.024	N	0.367	neutral	N	0.355978056	None	None	I
H/E	0.1404	likely_benign	0.127	benign	-0.214	Destabilizing	0.007	N	0.235	neutral	None	None	None	None	I
H/F	0.2425	likely_benign	0.2133	benign	0.93	Stabilizing	0.072	N	0.385	neutral	None	None	None	None	I
H/G	0.1822	likely_benign	0.166	benign	0.048	Stabilizing	0.031	N	0.385	neutral	None	None	None	None	I
H/I	0.1297	likely_benign	0.1152	benign	0.893	Stabilizing	0.038	N	0.409	neutral	None	None	None	None	I
H/K	0.1159	likely_benign	0.1221	benign	0.227	Stabilizing	0.016	N	0.332	neutral	None	None	None	None	I
H/L	0.0681	likely_benign	0.0648	benign	0.893	Stabilizing	None	N	0.141	neutral	N	0.410697976	None	None	I
H/M	0.2232	likely_benign	0.192	benign	0.531	Stabilizing	0.214	N	0.405	neutral	None	None	None	None	I
H/N	0.0636	likely_benign	0.0608	benign	0.031	Stabilizing	0.024	N	0.229	neutral	N	0.399248831	None	None	I
H/P	0.1158	likely_benign	0.1157	benign	0.714	Stabilizing	0.106	N	0.427	neutral	N	0.395883239	None	None	I
H/Q	0.0837	likely_benign	0.0753	benign	0.13	Stabilizing	None	N	0.082	neutral	N	0.350321521	None	None	I
H/R	0.0764	likely_benign	0.0776	benign	-0.259	Destabilizing	0.012	N	0.244	neutral	N	0.371678228	None	None	I
H/S	0.1073	likely_benign	0.0985	benign	0.139	Stabilizing	0.016	N	0.326	neutral	None	None	None	None	I
H/T	0.1049	likely_benign	0.0962	benign	0.26	Stabilizing	0.031	N	0.355	neutral	None	None	None	None	I
H/V	0.1111	likely_benign	0.0985	benign	0.714	Stabilizing	0.016	N	0.382	neutral	None	None	None	None	I
H/W	0.3683	ambiguous	0.3655	ambiguous	0.876	Stabilizing	0.864	D	0.369	neutral	None	None	None	None	I
H/Y	0.0888	likely_benign	0.0898	benign	1.101	Stabilizing	0.106	N	0.259	neutral	N	0.471477076	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.