TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33119	99580;99581;99582	chr2:178537852;178537851;178537850	chr2:179402579;179402578;179402577
N2AB	31478	94657;94658;94659	chr2:178537852;178537851;178537850	chr2:179402579;179402578;179402577
N2A	30551	91876;91877;91878	chr2:178537852;178537851;178537850	chr2:179402579;179402578;179402577
N2B	24054	72385;72386;72387	chr2:178537852;178537851;178537850	chr2:179402579;179402578;179402577
Novex-1	24179	72760;72761;72762	chr2:178537852;178537851;178537850	chr2:179402579;179402578;179402577
Novex-2	24246	72961;72962;72963	chr2:178537852;178537851;178537850	chr2:179402579;179402578;179402577
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-156
• Domain position: 19
• Structural Position: 29
• Q(SASA): 0.6732
• 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/R	rs775783429	0.596	0.166	N	0.495	0.162	0.119812018005	gnomAD-2.1.1	2.42E-05	None	None	None	None	N	None	0	0	None	0	0	None	1.96258E-04	None	0	0	0
Q/R	rs775783429	0.596	0.166	N	0.495	0.162	0.119812018005	gnomAD-4.0.0	2.06933E-05	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.71984E-04	3.02462E-05

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	0.2072	likely_benign	0.2177	benign	-0.308	Destabilizing	0.267	N	0.393	neutral	None	None	None	None	N
Q/C	0.6227	likely_pathogenic	0.5902	pathogenic	0.164	Stabilizing	0.98	D	0.465	neutral	None	None	None	None	N
Q/D	0.4042	ambiguous	0.3978	ambiguous	0.058	Stabilizing	0.378	N	0.479	neutral	None	None	None	None	N
Q/E	0.0946	likely_benign	0.086	benign	0.054	Stabilizing	0.116	N	0.426	neutral	N	0.363970316	None	None	N
Q/F	0.613	likely_pathogenic	0.5993	pathogenic	-0.412	Destabilizing	0.889	D	0.521	neutral	None	None	None	None	N
Q/G	0.3431	ambiguous	0.3392	benign	-0.533	Destabilizing	0.669	D	0.499	neutral	None	None	None	None	N
Q/H	0.1709	likely_benign	0.1804	benign	-0.413	Destabilizing	0.929	D	0.484	neutral	N	0.449319787	None	None	N
Q/I	0.2764	likely_benign	0.2567	benign	0.205	Stabilizing	0.005	N	0.462	neutral	None	None	None	None	N
Q/K	0.0869	likely_benign	0.0785	benign	0.059	Stabilizing	0.001	N	0.323	neutral	N	0.394677226	None	None	N
Q/L	0.1209	likely_benign	0.1199	benign	0.205	Stabilizing	0.052	N	0.413	neutral	N	0.430501953	None	None	N
Q/M	0.2991	likely_benign	0.3017	benign	0.493	Stabilizing	0.851	D	0.468	neutral	None	None	None	None	N
Q/N	0.2434	likely_benign	0.249	benign	-0.331	Destabilizing	0.378	N	0.48	neutral	None	None	None	None	N
Q/P	0.3037	likely_benign	0.2813	benign	0.064	Stabilizing	0.482	N	0.516	neutral	N	0.509098809	None	None	N
Q/R	0.1142	likely_benign	0.1058	benign	0.185	Stabilizing	0.166	N	0.495	neutral	N	0.411108116	None	None	N
Q/S	0.1963	likely_benign	0.21	benign	-0.354	Destabilizing	0.295	N	0.451	neutral	None	None	None	None	N
Q/T	0.1292	likely_benign	0.1281	benign	-0.185	Destabilizing	None	N	0.328	neutral	None	None	None	None	N
Q/V	0.1768	likely_benign	0.1735	benign	0.064	Stabilizing	0.048	N	0.413	neutral	None	None	None	None	N
Q/W	0.5944	likely_pathogenic	0.5836	pathogenic	-0.348	Destabilizing	0.996	D	0.48	neutral	None	None	None	None	N
Q/Y	0.4541	ambiguous	0.4367	ambiguous	-0.101	Destabilizing	0.961	D	0.55	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.