TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29818	89677;89678;89679	chr2:178553553;178553552;178553551	chr2:179418280;179418279;179418278
N2AB	28177	84754;84755;84756	chr2:178553553;178553552;178553551	chr2:179418280;179418279;179418278
N2A	27250	81973;81974;81975	chr2:178553553;178553552;178553551	chr2:179418280;179418279;179418278
N2B	20753	62482;62483;62484	chr2:178553553;178553552;178553551	chr2:179418280;179418279;179418278
Novex-1	20878	62857;62858;62859	chr2:178553553;178553552;178553551	chr2:179418280;179418279;179418278
Novex-2	20945	63058;63059;63060	chr2:178553553;178553552;178553551	chr2:179418280;179418279;179418278
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: Fn3-105
• Domain position: 85
• Structural Position: 117
• Q(SASA): 0.725
• Predicted PPI site: I

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/K	None	None	0.002	N	0.29	0.086	0.101711395817	gnomAD-4.0.0	1.59127E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	1.43291E-05	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	0.1366	likely_benign	0.1447	benign	-0.423	Destabilizing	0.495	N	0.513	neutral	None	None	None	None	I
Q/C	0.4426	ambiguous	0.4532	ambiguous	0.14	Stabilizing	0.995	D	0.603	neutral	None	None	None	None	I
Q/D	0.4479	ambiguous	0.4027	ambiguous	0.03	Stabilizing	0.704	D	0.463	neutral	None	None	None	None	I
Q/E	0.0875	likely_benign	0.0819	benign	0.039	Stabilizing	0.27	N	0.357	neutral	N	0.468858058	None	None	I
Q/F	0.4833	ambiguous	0.4841	ambiguous	-0.393	Destabilizing	0.944	D	0.609	neutral	None	None	None	None	I
Q/G	0.2919	likely_benign	0.2813	benign	-0.676	Destabilizing	0.704	D	0.553	neutral	None	None	None	None	I
Q/H	0.1902	likely_benign	0.1846	benign	-0.506	Destabilizing	0.006	N	0.325	neutral	N	0.508976671	None	None	I
Q/I	0.1831	likely_benign	0.1966	benign	0.173	Stabilizing	0.893	D	0.611	neutral	None	None	None	None	I
Q/K	0.068	likely_benign	0.0679	benign	-0.05	Destabilizing	0.002	N	0.29	neutral	N	0.453371318	None	None	I
Q/L	0.0885	likely_benign	0.0896	benign	0.173	Stabilizing	0.642	D	0.55	neutral	N	0.452101881	None	None	I
Q/M	0.2323	likely_benign	0.2351	benign	0.533	Stabilizing	0.981	D	0.61	neutral	None	None	None	None	I
Q/N	0.3036	likely_benign	0.2908	benign	-0.425	Destabilizing	0.704	D	0.461	neutral	None	None	None	None	I
Q/P	0.1043	likely_benign	0.1022	benign	0.005	Stabilizing	0.784	D	0.583	neutral	N	0.456547696	None	None	I
Q/R	0.0776	likely_benign	0.081	benign	0.11	Stabilizing	0.27	N	0.477	neutral	N	0.460068003	None	None	I
Q/S	0.2035	likely_benign	0.2114	benign	-0.497	Destabilizing	0.329	N	0.479	neutral	None	None	None	None	I
Q/T	0.1397	likely_benign	0.1509	benign	-0.312	Destabilizing	0.031	N	0.357	neutral	None	None	None	None	I
Q/V	0.1245	likely_benign	0.1359	benign	0.005	Stabilizing	0.704	D	0.577	neutral	None	None	None	None	I
Q/W	0.4732	ambiguous	0.4321	ambiguous	-0.28	Destabilizing	0.995	D	0.603	neutral	None	None	None	None	I
Q/Y	0.3832	ambiguous	0.3659	ambiguous	-0.07	Destabilizing	0.893	D	0.602	neutral	None	None	None	None	I

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.