TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5326	16201;16202;16203	chr2:178733317;178733316;178733315	chr2:179598044;179598043;179598042
N2AB	5009	15250;15251;15252	chr2:178733317;178733316;178733315	chr2:179598044;179598043;179598042
N2A	4082	12469;12470;12471	chr2:178733317;178733316;178733315	chr2:179598044;179598043;179598042
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
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-36
• Domain position: 66
• Structural Position: 148
• Q(SASA): 0.98
• 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/D	None	None	0.049	N	0.213	0.169	0.0846915920261	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	0.1277	likely_benign	0.1276	benign	0.465	Stabilizing	0.006	N	0.181	neutral	None	None	None	None	I
H/C	0.1868	likely_benign	0.1738	benign	0.758	Stabilizing	0.781	D	0.241	neutral	None	None	None	None	I
H/D	0.107	likely_benign	0.1062	benign	0.019	Stabilizing	0.049	N	0.213	neutral	N	0.366051994	None	None	I
H/E	0.1399	likely_benign	0.1439	benign	0.025	Stabilizing	0.015	N	0.159	neutral	None	None	None	None	I
H/F	0.2674	likely_benign	0.2656	benign	0.947	Stabilizing	0.076	N	0.346	neutral	None	None	None	None	I
H/G	0.1414	likely_benign	0.1369	benign	0.22	Stabilizing	None	N	0.106	neutral	None	None	None	None	I
H/I	0.2297	likely_benign	0.2322	benign	1.073	Stabilizing	0.142	N	0.38	neutral	None	None	None	None	I
H/K	0.1708	likely_benign	0.1628	benign	0.387	Stabilizing	0.015	N	0.189	neutral	None	None	None	None	I
H/L	0.0852	likely_benign	0.0826	benign	1.073	Stabilizing	0.025	N	0.221	neutral	N	0.41145583	None	None	I
H/M	0.3135	likely_benign	0.3136	benign	0.832	Stabilizing	0.54	D	0.247	neutral	None	None	None	None	I
H/N	0.0583	likely_benign	0.0578	benign	0.391	Stabilizing	0.049	N	0.172	neutral	N	0.335747752	None	None	I
H/P	0.0916	likely_benign	0.0931	benign	0.896	Stabilizing	0.202	N	0.329	neutral	N	0.447510343	None	None	I
H/Q	0.0908	likely_benign	0.0923	benign	0.45	Stabilizing	0.001	N	0.086	neutral	N	0.347970945	None	None	I
H/R	0.089	likely_benign	0.082	benign	-0.125	Destabilizing	None	N	0.125	neutral	N	0.370225788	None	None	I
H/S	0.1092	likely_benign	0.108	benign	0.486	Stabilizing	0.003	N	0.139	neutral	None	None	None	None	I
H/T	0.1443	likely_benign	0.1448	benign	0.587	Stabilizing	0.033	N	0.183	neutral	None	None	None	None	I
H/V	0.1694	likely_benign	0.1709	benign	0.896	Stabilizing	0.064	N	0.264	neutral	None	None	None	None	I
H/W	0.3233	likely_benign	0.3134	benign	0.853	Stabilizing	0.54	D	0.239	neutral	None	None	None	None	I
H/Y	0.1024	likely_benign	0.1013	benign	1.177	Stabilizing	None	N	0.151	neutral	N	0.438449432	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.