TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14843	44752;44753;44754	chr2:178625294;178625293;178625292	chr2:179490021;179490020;179490019
N2AB	13202	39829;39830;39831	chr2:178625294;178625293;178625292	chr2:179490021;179490020;179490019
N2A	12275	37048;37049;37050	chr2:178625294;178625293;178625292	chr2:179490021;179490020;179490019
N2B	5778	17557;17558;17559	chr2:178625294;178625293;178625292	chr2:179490021;179490020;179490019
Novex-1	5903	17932;17933;17934	chr2:178625294;178625293;178625292	chr2:179490021;179490020;179490019
Novex-2	5970	18133;18134;18135	chr2:178625294;178625293;178625292	chr2:179490021;179490020;179490019
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-99
• Domain position: 79
• Structural Position: 165
• Q(SASA): 0.4365
• 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/Q	None	None	None	N	0.137	0.07	0.0482279557977	gnomAD-4.0.0	6.87894E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.02402E-07	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	0.133	likely_benign	0.1292	benign	0.235	Stabilizing	None	N	0.323	neutral	None	None	None	None	N
H/C	0.1493	likely_benign	0.1443	benign	0.983	Stabilizing	0.316	N	0.544	neutral	None	None	None	None	N
H/D	0.1545	likely_benign	0.1293	benign	0.094	Stabilizing	0.001	N	0.274	neutral	N	0.41407829	None	None	N
H/E	0.1459	likely_benign	0.1266	benign	0.131	Stabilizing	None	N	0.137	neutral	None	None	None	None	N
H/F	0.2897	likely_benign	0.2771	benign	0.916	Stabilizing	0.116	N	0.517	neutral	None	None	None	None	N
H/G	0.2031	likely_benign	0.1877	benign	-0.078	Destabilizing	0.002	N	0.361	neutral	None	None	None	None	N
H/I	0.215	likely_benign	0.2079	benign	1.048	Stabilizing	0.018	N	0.5	neutral	None	None	None	None	N
H/K	0.1042	likely_benign	0.1059	benign	0.301	Stabilizing	None	N	0.213	neutral	None	None	None	None	N
H/L	0.1011	likely_benign	0.0977	benign	1.048	Stabilizing	0.003	N	0.367	neutral	N	0.374836692	None	None	N
H/M	0.2839	likely_benign	0.2778	benign	0.891	Stabilizing	0.041	N	0.613	neutral	None	None	None	None	N
H/N	0.0773	likely_benign	0.0738	benign	0.46	Stabilizing	0.001	N	0.246	neutral	N	0.383791003	None	None	N
H/P	0.3251	likely_benign	0.268	benign	0.803	Stabilizing	0.013	N	0.365	neutral	N	0.414231823	None	None	N
H/Q	0.0898	likely_benign	0.0818	benign	0.584	Stabilizing	None	N	0.137	neutral	N	0.308851058	None	None	N
H/R	0.0729	likely_benign	0.0661	benign	-0.358	Destabilizing	0.001	N	0.237	neutral	N	0.384008392	None	None	N
H/S	0.1092	likely_benign	0.1085	benign	0.563	Stabilizing	None	N	0.213	neutral	None	None	None	None	N
H/T	0.1123	likely_benign	0.1081	benign	0.694	Stabilizing	0.001	N	0.345	neutral	None	None	None	None	N
H/V	0.1508	likely_benign	0.1435	benign	0.803	Stabilizing	0.004	N	0.374	neutral	None	None	None	None	N
H/W	0.3526	ambiguous	0.307	benign	0.929	Stabilizing	0.316	N	0.54	neutral	None	None	None	None	N
H/Y	0.1059	likely_benign	0.1039	benign	1.229	Stabilizing	0.013	N	0.393	neutral	N	0.396762554	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.