TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32309	97150;97151;97152	chr2:178542929;178542928;178542927	chr2:179407656;179407655;179407654
N2AB	30668	92227;92228;92229	chr2:178542929;178542928;178542927	chr2:179407656;179407655;179407654
N2A	29741	89446;89447;89448	chr2:178542929;178542928;178542927	chr2:179407656;179407655;179407654
N2B	23244	69955;69956;69957	chr2:178542929;178542928;178542927	chr2:179407656;179407655;179407654
Novex-1	23369	70330;70331;70332	chr2:178542929;178542928;178542927	chr2:179407656;179407655;179407654
Novex-2	23436	70531;70532;70533	chr2:178542929;178542928;178542927	chr2:179407656;179407655;179407654
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Ig-154
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.5987
• 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
S/P	None	None	0.966	N	0.332	0.332	0.294561560033	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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
S/A	0.0803	likely_benign	0.0781	benign	-0.083	Destabilizing	0.005	N	0.193	neutral	N	0.504693933	None	None	N
S/C	0.1717	likely_benign	0.1575	benign	-0.316	Destabilizing	0.991	D	0.352	neutral	N	0.506774233	None	None	N
S/D	0.4105	ambiguous	0.3964	ambiguous	0.124	Stabilizing	0.842	D	0.337	neutral	None	None	None	None	N
S/E	0.4629	ambiguous	0.4729	ambiguous	0.019	Stabilizing	0.842	D	0.316	neutral	None	None	None	None	N
S/F	0.3589	ambiguous	0.3089	benign	-0.816	Destabilizing	0.966	D	0.418	neutral	N	0.506600875	None	None	N
S/G	0.0893	likely_benign	0.0851	benign	-0.139	Destabilizing	0.525	D	0.361	neutral	None	None	None	None	N
S/H	0.3218	likely_benign	0.3041	benign	-0.511	Destabilizing	0.998	D	0.351	neutral	None	None	None	None	N
S/I	0.2788	likely_benign	0.2485	benign	-0.071	Destabilizing	0.949	D	0.381	neutral	None	None	None	None	N
S/K	0.5179	ambiguous	0.5062	ambiguous	-0.346	Destabilizing	0.842	D	0.311	neutral	None	None	None	None	N
S/L	0.1555	likely_benign	0.1317	benign	-0.071	Destabilizing	0.728	D	0.381	neutral	None	None	None	None	N
S/M	0.2551	likely_benign	0.2337	benign	-0.085	Destabilizing	0.991	D	0.351	neutral	None	None	None	None	N
S/N	0.1815	likely_benign	0.1693	benign	-0.11	Destabilizing	0.842	D	0.364	neutral	None	None	None	None	N
S/P	0.4611	ambiguous	0.4326	ambiguous	-0.049	Destabilizing	0.966	D	0.332	neutral	N	0.476104609	None	None	N
S/Q	0.3997	ambiguous	0.4031	ambiguous	-0.314	Destabilizing	0.974	D	0.355	neutral	None	None	None	None	N
S/R	0.4415	ambiguous	0.4269	ambiguous	-0.131	Destabilizing	0.974	D	0.344	neutral	None	None	None	None	N
S/T	0.0957	likely_benign	0.0903	benign	-0.203	Destabilizing	0.022	N	0.2	neutral	N	0.486281531	None	None	N
S/V	0.2581	likely_benign	0.231	benign	-0.049	Destabilizing	0.728	D	0.381	neutral	None	None	None	None	N
S/W	0.4294	ambiguous	0.4053	ambiguous	-0.922	Destabilizing	0.998	D	0.475	neutral	None	None	None	None	N
S/Y	0.2978	likely_benign	0.2693	benign	-0.59	Destabilizing	0.989	D	0.413	neutral	N	0.506600875	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.