TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5836	17731;17732;17733	chr2:178731159;178731158;178731157	chr2:179595886;179595885;179595884
N2AB	5519	16780;16781;16782	chr2:178731159;178731158;178731157	chr2:179595886;179595885;179595884
N2A	4592	13999;14000;14001	chr2:178731159;178731158;178731157	chr2:179595886;179595885;179595884
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: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-42
• Domain position: 14
• Structural Position: 23
• Q(SASA): 0.3262
• 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
Q/L	None	None	0.001	N	0.118	0.112	0.280987212366	gnomAD-4.0.0	1.59151E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.02462E-05
Q/R	rs760072345	0.207	0.351	N	0.243	0.115	0.107399877778	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.88E-06	0
Q/R	rs760072345	0.207	0.351	N	0.243	0.115	0.107399877778	gnomAD-4.0.0	3.18301E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.71775E-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
Q/A	0.1251	likely_benign	0.1278	benign	-0.387	Destabilizing	0.228	N	0.327	neutral	None	None	None	None	N
Q/C	0.4685	ambiguous	0.577	pathogenic	0.246	Stabilizing	0.983	D	0.344	neutral	None	None	None	None	N
Q/D	0.3554	ambiguous	0.4173	ambiguous	-0.44	Destabilizing	0.129	N	0.219	neutral	None	None	None	None	N
Q/E	0.0554	likely_benign	0.0578	benign	-0.438	Destabilizing	0.001	N	0.063	neutral	N	0.376029963	None	None	N
Q/F	0.6131	likely_pathogenic	0.6853	pathogenic	-0.449	Destabilizing	0.716	D	0.421	neutral	None	None	None	None	N
Q/G	0.2251	likely_benign	0.2634	benign	-0.641	Destabilizing	0.418	N	0.381	neutral	None	None	None	None	N
Q/H	0.1733	likely_benign	0.2287	benign	-0.678	Destabilizing	0.002	N	0.209	neutral	N	0.482162924	None	None	N
Q/I	0.278	likely_benign	0.3121	benign	0.213	Stabilizing	0.264	N	0.404	neutral	None	None	None	None	N
Q/K	0.0864	likely_benign	0.094	benign	-0.12	Destabilizing	0.101	N	0.288	neutral	N	0.417823444	None	None	N
Q/L	0.122	likely_benign	0.1363	benign	0.213	Stabilizing	0.001	N	0.118	neutral	N	0.442815102	None	None	N
Q/M	0.2985	likely_benign	0.3131	benign	0.738	Stabilizing	0.716	D	0.253	neutral	None	None	None	None	N
Q/N	0.2723	likely_benign	0.3223	benign	-0.471	Destabilizing	0.264	N	0.215	neutral	None	None	None	None	N
Q/P	0.1767	likely_benign	0.2259	benign	0.043	Stabilizing	0.523	D	0.401	neutral	N	0.449511788	None	None	N
Q/R	0.0966	likely_benign	0.1058	benign	0.038	Stabilizing	0.351	N	0.243	neutral	N	0.454264247	None	None	N
Q/S	0.1988	likely_benign	0.2234	benign	-0.478	Destabilizing	0.228	N	0.22	neutral	None	None	None	None	N
Q/T	0.1726	likely_benign	0.1908	benign	-0.311	Destabilizing	0.418	N	0.343	neutral	None	None	None	None	N
Q/V	0.1642	likely_benign	0.1768	benign	0.043	Stabilizing	0.01	N	0.141	neutral	None	None	None	None	N
Q/W	0.5323	ambiguous	0.5791	pathogenic	-0.375	Destabilizing	0.983	D	0.345	neutral	None	None	None	None	N
Q/Y	0.3767	ambiguous	0.4483	ambiguous	-0.138	Destabilizing	0.264	N	0.431	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.