TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9559	28900;28901;28902	chr2:178709644;178709643;178709642	chr2:179574371;179574370;179574369
N2AB	9242	27949;27950;27951	chr2:178709644;178709643;178709642	chr2:179574371;179574370;179574369
N2A	8315	25168;25169;25170	chr2:178709644;178709643;178709642	chr2:179574371;179574370;179574369
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: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-81
• Domain position: 67
• Structural Position: 148
• Q(SASA): 0.8656
• 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
N/D	None	None	None	None	0.158	0.108	0.0401082797425	gnomAD-4.0.0	1.5911E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.02371E-05
N/K	None	None	0.004	None	0.149	0.029	0.0138822411134	gnomAD-4.0.0	6.84181E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99447E-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
N/A	0.076	likely_benign	0.0735	benign	-0.152	Destabilizing	None	N	0.121	neutral	None	None	None	None	N
N/C	0.1833	likely_benign	0.1812	benign	0.292	Stabilizing	0.132	N	0.271	neutral	None	None	None	None	N
N/D	0.0708	likely_benign	0.0606	benign	0.009	Stabilizing	None	N	0.158	neutral	None	None	None	None	N
N/E	0.1446	likely_benign	0.1253	benign	-0.058	Destabilizing	0.002	N	0.15	neutral	None	None	None	None	N
N/F	0.3298	likely_benign	0.2881	benign	-0.731	Destabilizing	0.021	N	0.401	neutral	None	None	None	None	N
N/G	0.1013	likely_benign	0.0907	benign	-0.247	Destabilizing	None	N	0.104	neutral	None	None	None	None	N
N/H	0.1068	likely_benign	0.0934	benign	-0.294	Destabilizing	0.103	N	0.238	neutral	None	None	None	None	N
N/I	0.1468	likely_benign	0.1254	benign	0.003	Stabilizing	None	N	0.309	neutral	None	None	None	None	N
N/K	0.1473	likely_benign	0.1295	benign	0.121	Stabilizing	0.004	N	0.149	neutral	None	None	None	None	N
N/L	0.1428	likely_benign	0.13	benign	0.003	Stabilizing	None	N	0.177	neutral	None	None	None	None	N
N/M	0.2017	likely_benign	0.1842	benign	0.208	Stabilizing	0.069	N	0.325	neutral	None	None	None	None	N
N/P	0.3177	likely_benign	0.2976	benign	-0.026	Destabilizing	None	N	0.161	neutral	None	None	None	None	N
N/Q	0.1761	likely_benign	0.154	benign	-0.2	Destabilizing	0.009	N	0.182	neutral	None	None	None	None	N
N/R	0.1594	likely_benign	0.139	benign	0.213	Stabilizing	0.009	N	0.181	neutral	None	None	None	None	N
N/S	0.0592	likely_benign	0.0571	benign	0.042	Stabilizing	None	N	0.118	neutral	None	None	None	None	N
N/T	0.0777	likely_benign	0.075	benign	0.083	Stabilizing	None	N	0.109	neutral	None	None	None	None	N
N/V	0.1244	likely_benign	0.1109	benign	-0.026	Destabilizing	None	N	0.178	neutral	None	None	None	None	N
N/W	0.5314	ambiguous	0.4696	ambiguous	-0.846	Destabilizing	0.316	N	0.244	neutral	None	None	None	None	N
N/Y	0.1283	likely_benign	0.1111	benign	-0.535	Destabilizing	0.032	N	0.369	neutral	None	None	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.