TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5114	15565;15566;15567	chr2:178734484;178734483;178734482	chr2:179599211;179599210;179599209
N2AB	4797	14614;14615;14616	chr2:178734484;178734483;178734482	chr2:179599211;179599210;179599209
N2A	3870	11833;11834;11835	chr2:178734484;178734483;178734482	chr2:179599211;179599210;179599209
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-34
• Domain position: 40
• Structural Position: 56
• Q(SASA): 0.2961
• 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/P	None	None	0.007	N	0.167	0.248	0.176091768786	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	2.75482E-04	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
Q/A	0.1972	likely_benign	0.2415	benign	-0.329	Destabilizing	0.037	N	0.178	neutral	None	None	None	None	N
Q/C	0.783	likely_pathogenic	0.8457	pathogenic	-0.009	Destabilizing	0.993	D	0.368	neutral	None	None	None	None	N
Q/D	0.7291	likely_pathogenic	0.8015	pathogenic	0.299	Stabilizing	0.932	D	0.169	neutral	None	None	None	None	N
Q/E	0.1229	likely_benign	0.1355	benign	0.33	Stabilizing	0.811	D	0.215	neutral	N	0.408006623	None	None	N
Q/F	0.8213	likely_pathogenic	0.8885	pathogenic	-0.302	Destabilizing	0.98	D	0.389	neutral	None	None	None	None	N
Q/G	0.4443	ambiguous	0.5464	ambiguous	-0.578	Destabilizing	0.737	D	0.337	neutral	None	None	None	None	N
Q/H	0.3875	ambiguous	0.4729	ambiguous	-0.242	Destabilizing	0.991	D	0.333	neutral	D	0.542480423	None	None	N
Q/I	0.3618	ambiguous	0.4399	ambiguous	0.257	Stabilizing	0.773	D	0.367	neutral	None	None	None	None	N
Q/K	0.1638	likely_benign	0.1752	benign	0.057	Stabilizing	0.811	D	0.21	neutral	N	0.478852348	None	None	N
Q/L	0.1591	likely_benign	0.1843	benign	0.257	Stabilizing	0.514	D	0.303	neutral	N	0.466653008	None	None	N
Q/M	0.3396	likely_benign	0.3858	ambiguous	0.282	Stabilizing	0.98	D	0.324	neutral	None	None	None	None	N
Q/N	0.449	ambiguous	0.5358	ambiguous	-0.446	Destabilizing	0.932	D	0.195	neutral	None	None	None	None	N
Q/P	0.0876	likely_benign	0.1	benign	0.091	Stabilizing	0.007	N	0.167	neutral	N	0.407585469	None	None	N
Q/R	0.2251	likely_benign	0.2349	benign	0.194	Stabilizing	0.912	D	0.218	neutral	N	0.501719533	None	None	N
Q/S	0.3895	ambiguous	0.4694	ambiguous	-0.505	Destabilizing	0.584	D	0.177	neutral	None	None	None	None	N
Q/T	0.2776	likely_benign	0.3426	ambiguous	-0.295	Destabilizing	0.037	N	0.176	neutral	None	None	None	None	N
Q/V	0.253	likely_benign	0.3019	benign	0.091	Stabilizing	0.037	N	0.233	neutral	None	None	None	None	N
Q/W	0.7932	likely_pathogenic	0.8533	pathogenic	-0.235	Destabilizing	0.998	D	0.378	neutral	None	None	None	None	N
Q/Y	0.6767	likely_pathogenic	0.7589	pathogenic	0.01	Stabilizing	0.993	D	0.379	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.