TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9937	30034;30035;30036	chr2:178704663;178704662;178704661	chr2:179569390;179569389;179569388
N2AB	9620	29083;29084;29085	chr2:178704663;178704662;178704661	chr2:179569390;179569389;179569388
N2A	8693	26302;26303;26304	chr2:178704663;178704662;178704661	chr2:179569390;179569389;179569388
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: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-84
• Domain position: 38
• Structural Position: 51
• Q(SASA): 0.1704
• 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
G/R	rs2075573477	None	1.0	None	0.605	0.442	0.450152462452	gnomAD-4.0.0	1.59557E-06	None	None	None	None	N	None	5.65483E-05	0	None	0	0	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
G/A	0.8289	likely_pathogenic	0.8891	pathogenic	-0.609	Destabilizing	1.0	D	0.563	neutral	None	None	None	None	N
G/C	0.9631	likely_pathogenic	0.9788	pathogenic	-0.901	Destabilizing	1.0	D	0.602	neutral	None	None	None	None	N
G/D	0.8792	likely_pathogenic	0.9288	pathogenic	-0.884	Destabilizing	1.0	D	0.635	neutral	None	None	None	None	N
G/E	0.9511	likely_pathogenic	0.9725	pathogenic	-0.977	Destabilizing	1.0	D	0.633	neutral	None	None	None	None	N
G/F	0.9904	likely_pathogenic	0.9939	pathogenic	-0.995	Destabilizing	1.0	D	0.561	neutral	None	None	None	None	N
G/H	0.9858	likely_pathogenic	0.9923	pathogenic	-1.066	Destabilizing	1.0	D	0.578	neutral	None	None	None	None	N
G/I	0.9868	likely_pathogenic	0.9914	pathogenic	-0.386	Destabilizing	1.0	D	0.575	neutral	None	None	None	None	N
G/K	0.9861	likely_pathogenic	0.9918	pathogenic	-1.168	Destabilizing	1.0	D	0.634	neutral	None	None	None	None	N
G/L	0.9814	likely_pathogenic	0.9882	pathogenic	-0.386	Destabilizing	1.0	D	0.629	neutral	None	None	None	None	N
G/M	0.9867	likely_pathogenic	0.992	pathogenic	-0.374	Destabilizing	1.0	D	0.592	neutral	None	None	None	None	N
G/N	0.8936	likely_pathogenic	0.9357	pathogenic	-0.818	Destabilizing	1.0	D	0.592	neutral	None	None	None	None	N
G/P	0.9985	likely_pathogenic	0.9991	pathogenic	-0.42	Destabilizing	1.0	D	0.613	neutral	None	None	None	None	N
G/Q	0.9759	likely_pathogenic	0.9868	pathogenic	-1.039	Destabilizing	1.0	D	0.599	neutral	None	None	None	None	N
G/R	0.979	likely_pathogenic	0.988	pathogenic	-0.781	Destabilizing	1.0	D	0.605	neutral	None	None	None	None	N
G/S	0.7465	likely_pathogenic	0.84	pathogenic	-1.056	Destabilizing	1.0	D	0.587	neutral	None	None	None	None	N
G/T	0.9531	likely_pathogenic	0.9722	pathogenic	-1.072	Destabilizing	1.0	D	0.632	neutral	None	None	None	None	N
G/V	0.9696	likely_pathogenic	0.9804	pathogenic	-0.42	Destabilizing	1.0	D	0.634	neutral	None	None	None	None	N
G/W	0.9836	likely_pathogenic	0.9895	pathogenic	-1.276	Destabilizing	1.0	D	0.593	neutral	None	None	None	None	N
G/Y	0.9794	likely_pathogenic	0.9882	pathogenic	-0.892	Destabilizing	1.0	D	0.562	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.