TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6499	19720;19721;19722	chr2:178728329;178728328;178728327	chr2:179593056;179593055;179593054
N2AB	6182	18769;18770;18771	chr2:178728329;178728328;178728327	chr2:179593056;179593055;179593054
N2A	5255	15988;15989;15990	chr2:178728329;178728328;178728327	chr2:179593056;179593055;179593054
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: CAT
• RefSeq wild type template codon: GTA
• Domain: Ig-49
• Domain position: 19
• Structural Position: 29
• Q(SASA): 0.4489
• 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/L	rs375173049	1.104	0.055	N	0.516	0.212	None	gnomAD-2.1.1	3.25E-05	None	None	None	None	N	None	3.74251E-04	0	None	0	0	None	0	None	0	0	0
H/L	rs375173049	1.104	0.055	N	0.516	0.212	None	gnomAD-3.1.2	1.18312E-04	None	None	None	None	N	None	4.34363E-04	0	0	0	0	None	0	0	0	0	0
H/L	rs375173049	1.104	0.055	N	0.516	0.212	None	gnomAD-4.0.0	1.79944E-05	None	None	None	None	N	None	3.87545E-04	0	None	0	0	None	0	0	0	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	0.1464	likely_benign	0.1704	benign	-0.009	Destabilizing	0.016	N	0.488	neutral	None	None	None	None	N
H/C	0.1129	likely_benign	0.1512	benign	0.629	Stabilizing	0.864	D	0.587	neutral	None	None	None	None	N
H/D	0.1268	likely_benign	0.1417	benign	0.021	Stabilizing	0.055	N	0.49	neutral	N	0.426501642	None	None	N
H/E	0.1443	likely_benign	0.1652	benign	0.054	Stabilizing	0.016	N	0.417	neutral	None	None	None	None	N
H/F	0.2167	likely_benign	0.2514	benign	0.657	Stabilizing	0.356	N	0.583	neutral	None	None	None	None	N
H/G	0.188	likely_benign	0.2141	benign	-0.309	Destabilizing	0.072	N	0.532	neutral	None	None	None	None	N
H/I	0.1629	likely_benign	0.1952	benign	0.769	Stabilizing	0.356	N	0.601	neutral	None	None	None	None	N
H/K	0.1207	likely_benign	0.1417	benign	0.016	Stabilizing	0.016	N	0.467	neutral	None	None	None	None	N
H/L	0.0802	likely_benign	0.0823	benign	0.769	Stabilizing	0.055	N	0.516	neutral	N	0.41245491	None	None	N
H/M	0.2917	likely_benign	0.3434	ambiguous	0.631	Stabilizing	0.356	N	0.582	neutral	None	None	None	None	N
H/N	0.0699	likely_benign	0.0764	benign	0.132	Stabilizing	0.055	N	0.505	neutral	N	0.41601529	None	None	N
H/P	0.2087	likely_benign	0.1952	benign	0.535	Stabilizing	0.106	N	0.602	neutral	N	0.453032315	None	None	N
H/Q	0.0832	likely_benign	0.0932	benign	0.237	Stabilizing	None	N	0.265	neutral	N	0.371744438	None	None	N
H/R	0.0586	likely_benign	0.0632	benign	-0.508	Destabilizing	None	N	0.242	neutral	N	0.406259656	None	None	N
H/S	0.1223	likely_benign	0.1383	benign	0.161	Stabilizing	0.016	N	0.475	neutral	None	None	None	None	N
H/T	0.1161	likely_benign	0.1448	benign	0.29	Stabilizing	0.072	N	0.549	neutral	None	None	None	None	N
H/V	0.1376	likely_benign	0.1539	benign	0.535	Stabilizing	0.072	N	0.569	neutral	None	None	None	None	N
H/W	0.2805	likely_benign	0.315	benign	0.717	Stabilizing	0.864	D	0.584	neutral	None	None	None	None	N
H/Y	0.0839	likely_benign	0.0891	benign	0.997	Stabilizing	0.106	N	0.503	neutral	N	0.45336017	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.