TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9968	30127;30128;30129	chr2:178704570;178704569;178704568	chr2:179569297;179569296;179569295
N2AB	9651	29176;29177;29178	chr2:178704570;178704569;178704568	chr2:179569297;179569296;179569295
N2A	8724	26395;26396;26397	chr2:178704570;178704569;178704568	chr2:179569297;179569296;179569295
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: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-84
• Domain position: 69
• Structural Position: 151
• Q(SASA): 0.2194
• 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	0.98	None	0.587	0.511	0.531873083431	gnomAD-4.0.0	1.59195E-06	None	None	None	None	N	None	0	2.2899E-05	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
Q/A	0.408	ambiguous	0.4134	ambiguous	-0.666	Destabilizing	0.97	D	0.602	neutral	None	None	None	None	N
Q/C	0.9513	likely_pathogenic	0.9558	pathogenic	-0.042	Destabilizing	1.0	D	0.677	prob.neutral	None	None	None	None	N
Q/D	0.8537	likely_pathogenic	0.8419	pathogenic	-0.531	Destabilizing	0.942	D	0.565	neutral	None	None	None	None	N
Q/E	0.1123	likely_benign	0.1045	benign	-0.456	Destabilizing	0.248	N	0.11	neutral	None	None	None	None	N
Q/F	0.9773	likely_pathogenic	0.977	pathogenic	-0.412	Destabilizing	0.999	D	0.663	neutral	None	None	None	None	N
Q/G	0.6161	likely_pathogenic	0.6027	pathogenic	-1.004	Destabilizing	0.985	D	0.588	neutral	None	None	None	None	N
Q/H	0.7749	likely_pathogenic	0.7562	pathogenic	-0.852	Destabilizing	0.998	D	0.553	neutral	None	None	None	None	N
Q/I	0.8449	likely_pathogenic	0.8412	pathogenic	0.184	Stabilizing	0.999	D	0.676	prob.neutral	None	None	None	None	N
Q/K	0.279	likely_benign	0.2534	benign	-0.365	Destabilizing	0.835	D	0.569	neutral	None	None	None	None	N
Q/L	0.6226	likely_pathogenic	0.6006	pathogenic	0.184	Stabilizing	0.98	D	0.587	neutral	None	None	None	None	N
Q/M	0.6838	likely_pathogenic	0.6856	pathogenic	0.659	Stabilizing	0.999	D	0.543	neutral	None	None	None	None	N
Q/N	0.7218	likely_pathogenic	0.6929	pathogenic	-0.89	Destabilizing	0.985	D	0.544	neutral	None	None	None	None	N
Q/P	0.911	likely_pathogenic	0.9155	pathogenic	-0.068	Destabilizing	0.998	D	0.629	neutral	None	None	None	None	N
Q/R	0.3278	likely_benign	0.3194	benign	-0.255	Destabilizing	0.071	N	0.237	neutral	None	None	None	None	N
Q/S	0.5447	ambiguous	0.5347	ambiguous	-0.983	Destabilizing	0.97	D	0.565	neutral	None	None	None	None	N
Q/T	0.5004	ambiguous	0.4929	ambiguous	-0.716	Destabilizing	0.985	D	0.584	neutral	None	None	None	None	N
Q/V	0.7192	likely_pathogenic	0.7226	pathogenic	-0.068	Destabilizing	0.996	D	0.603	neutral	None	None	None	None	N
Q/W	0.971	likely_pathogenic	0.9711	pathogenic	-0.272	Destabilizing	1.0	D	0.69	prob.neutral	None	None	None	None	N
Q/Y	0.9511	likely_pathogenic	0.946	pathogenic	-0.063	Destabilizing	0.999	D	0.642	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.