TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33630	101113;101114;101115	chr2:178535727;178535726;178535725	chr2:179400454;179400453;179400452
N2AB	31989	96190;96191;96192	chr2:178535727;178535726;178535725	chr2:179400454;179400453;179400452
N2A	31062	93409;93410;93411	chr2:178535727;178535726;178535725	chr2:179400454;179400453;179400452
N2B	24565	73918;73919;73920	chr2:178535727;178535726;178535725	chr2:179400454;179400453;179400452
Novex-1	24690	74293;74294;74295	chr2:178535727;178535726;178535725	chr2:179400454;179400453;179400452
Novex-2	24757	74494;74495;74496	chr2:178535727;178535726;178535725	chr2:179400454;179400453;179400452
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-159
• Domain position: 35
• Structural Position: 49
• Q(SASA): 0.238
• 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/L	None	None	0.997	N	0.643	0.504	0.352048277211	gnomAD-4.0.0	1.59138E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.02425E-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	0.8105	likely_pathogenic	0.7675	pathogenic	-0.784	Destabilizing	0.999	D	0.553	neutral	None	None	None	None	N
Q/C	0.9813	likely_pathogenic	0.9685	pathogenic	-0.271	Destabilizing	1.0	D	0.764	deleterious	None	None	None	None	N
Q/D	0.9855	likely_pathogenic	0.977	pathogenic	-0.98	Destabilizing	0.997	D	0.501	neutral	None	None	None	None	N
Q/E	0.4575	ambiguous	0.3403	ambiguous	-0.802	Destabilizing	0.993	D	0.407	neutral	N	0.441239021	None	None	N
Q/F	0.9777	likely_pathogenic	0.9634	pathogenic	-0.307	Destabilizing	1.0	D	0.775	deleterious	None	None	None	None	N
Q/G	0.8703	likely_pathogenic	0.8404	pathogenic	-1.202	Destabilizing	0.999	D	0.643	neutral	None	None	None	None	N
Q/H	0.8897	likely_pathogenic	0.8228	pathogenic	-0.947	Destabilizing	0.999	D	0.725	prob.delet.	N	0.480469413	None	None	N
Q/I	0.9066	likely_pathogenic	0.8602	pathogenic	0.321	Stabilizing	0.999	D	0.779	deleterious	None	None	None	None	N
Q/K	0.5734	likely_pathogenic	0.4292	ambiguous	-0.352	Destabilizing	0.997	D	0.498	neutral	N	0.407683808	None	None	N
Q/L	0.6766	likely_pathogenic	0.5987	pathogenic	0.321	Stabilizing	0.997	D	0.643	neutral	N	0.435675699	None	None	N
Q/M	0.7553	likely_pathogenic	0.6978	pathogenic	0.664	Stabilizing	0.999	D	0.729	prob.delet.	None	None	None	None	N
Q/N	0.8895	likely_pathogenic	0.8567	pathogenic	-1.075	Destabilizing	0.999	D	0.661	neutral	None	None	None	None	N
Q/P	0.9972	likely_pathogenic	0.9965	pathogenic	-0.017	Destabilizing	0.999	D	0.779	deleterious	N	0.452703146	None	None	N
Q/R	0.6238	likely_pathogenic	0.4913	ambiguous	-0.406	Destabilizing	0.995	D	0.489	neutral	N	0.427693721	None	None	N
Q/S	0.7858	likely_pathogenic	0.749	pathogenic	-1.254	Destabilizing	0.999	D	0.486	neutral	None	None	None	None	N
Q/T	0.7383	likely_pathogenic	0.6823	pathogenic	-0.866	Destabilizing	0.993	D	0.689	prob.neutral	None	None	None	None	N
Q/V	0.8346	likely_pathogenic	0.7851	pathogenic	-0.017	Destabilizing	0.998	D	0.701	prob.neutral	None	None	None	None	N
Q/W	0.9844	likely_pathogenic	0.9711	pathogenic	-0.19	Destabilizing	1.0	D	0.76	deleterious	None	None	None	None	N
Q/Y	0.9663	likely_pathogenic	0.9373	pathogenic	0.087	Stabilizing	1.0	D	0.789	deleterious	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.