TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14740	44443;44444;44445	chr2:178630304;178630303;178630302	chr2:179495031;179495030;179495029
N2AB	13099	39520;39521;39522	chr2:178630304;178630303;178630302	chr2:179495031;179495030;179495029
N2A	12172	36739;36740;36741	chr2:178630304;178630303;178630302	chr2:179495031;179495030;179495029
N2B	5675	17248;17249;17250	chr2:178630304;178630303;178630302	chr2:179495031;179495030;179495029
Novex-1	5800	17623;17624;17625	chr2:178630304;178630303;178630302	chr2:179495031;179495030;179495029
Novex-2	5867	17824;17825;17826	chr2:178630304;178630303;178630302	chr2:179495031;179495030;179495029
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-98
• Domain position: 66
• Structural Position: 149
• Q(SASA): 0.2149
• 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/H	None	None	0.996	N	0.547	0.239	0.272639205421	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.66327E-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	0.6967	likely_pathogenic	0.7137	pathogenic	-0.665	Destabilizing	0.938	D	0.69	prob.delet.	None	None	None	None	N
Q/C	0.9399	likely_pathogenic	0.9587	pathogenic	-0.056	Destabilizing	0.999	D	0.841	deleterious	None	None	None	None	N
Q/D	0.5807	likely_pathogenic	0.5925	pathogenic	-0.438	Destabilizing	0.989	D	0.59	neutral	None	None	None	None	N
Q/E	0.1611	likely_benign	0.1541	benign	-0.32	Destabilizing	0.967	D	0.575	neutral	N	0.425302423	None	None	N
Q/F	0.9104	likely_pathogenic	0.93	pathogenic	-0.311	Destabilizing	0.981	D	0.848	deleterious	None	None	None	None	N
Q/G	0.7304	likely_pathogenic	0.7835	pathogenic	-1.041	Destabilizing	0.968	D	0.824	deleterious	None	None	None	None	N
Q/H	0.5468	ambiguous	0.6334	pathogenic	-0.76	Destabilizing	0.996	D	0.547	neutral	N	0.434410702	None	None	N
Q/I	0.8002	likely_pathogenic	0.8192	pathogenic	0.298	Stabilizing	0.964	D	0.829	deleterious	None	None	None	None	N
Q/K	0.3024	likely_benign	0.3339	benign	-0.329	Destabilizing	0.958	D	0.569	neutral	N	0.443772193	None	None	N
Q/L	0.3631	ambiguous	0.3937	ambiguous	0.298	Stabilizing	0.702	D	0.686	prob.delet.	N	0.445479816	None	None	N
Q/M	0.4668	ambiguous	0.4733	ambiguous	0.682	Stabilizing	0.37	N	0.324	neutral	None	None	None	None	N
Q/N	0.6153	likely_pathogenic	0.6647	pathogenic	-0.96	Destabilizing	0.997	D	0.569	neutral	None	None	None	None	N
Q/P	0.9135	likely_pathogenic	0.9369	pathogenic	0.009	Stabilizing	0.996	D	0.702	prob.delet.	N	0.445227066	None	None	N
Q/R	0.4009	ambiguous	0.4376	ambiguous	-0.286	Destabilizing	0.958	D	0.613	neutral	N	0.427264775	None	None	N
Q/S	0.6709	likely_pathogenic	0.7122	pathogenic	-1.068	Destabilizing	0.968	D	0.559	neutral	None	None	None	None	N
Q/T	0.6662	likely_pathogenic	0.6942	pathogenic	-0.739	Destabilizing	0.968	D	0.731	deleterious	None	None	None	None	N
Q/V	0.6661	likely_pathogenic	0.695	pathogenic	0.009	Stabilizing	0.883	D	0.796	deleterious	None	None	None	None	N
Q/W	0.8675	likely_pathogenic	0.9057	pathogenic	-0.18	Destabilizing	0.999	D	0.811	deleterious	None	None	None	None	N
Q/Y	0.8058	likely_pathogenic	0.8609	pathogenic	0.036	Stabilizing	0.997	D	0.685	prob.delet.	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.