TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29529	88810;88811;88812	chr2:178554874;178554873;178554872	chr2:179419601;179419600;179419599
N2AB	27888	83887;83888;83889	chr2:178554874;178554873;178554872	chr2:179419601;179419600;179419599
N2A	26961	81106;81107;81108	chr2:178554874;178554873;178554872	chr2:179419601;179419600;179419599
N2B	20464	61615;61616;61617	chr2:178554874;178554873;178554872	chr2:179419601;179419600;179419599
Novex-1	20589	61990;61991;61992	chr2:178554874;178554873;178554872	chr2:179419601;179419600;179419599
Novex-2	20656	62191;62192;62193	chr2:178554874;178554873;178554872	chr2:179419601;179419600;179419599
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-146
• Domain position: 86
• Structural Position: 175
• Q(SASA): 0.3764
• 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	0.383	0.341	0.27132560031	gnomAD-4.0.0	6.84184E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99428E-07	0	0
Q/R	None	None	0.986	N	0.32	0.294	0.232513804876	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
Q/A	0.3423	ambiguous	0.3563	ambiguous	-0.717	Destabilizing	0.927	D	0.383	neutral	None	None	None	None	N
Q/C	0.6481	likely_pathogenic	0.6466	pathogenic	-0.162	Destabilizing	0.999	D	0.488	neutral	None	None	None	None	N
Q/D	0.5432	ambiguous	0.546	ambiguous	-0.578	Destabilizing	0.99	D	0.335	neutral	None	None	None	None	N
Q/E	0.0908	likely_benign	0.0944	benign	-0.451	Destabilizing	0.967	D	0.32	neutral	N	0.437935797	None	None	N
Q/F	0.7821	likely_pathogenic	0.7802	pathogenic	-0.279	Destabilizing	0.982	D	0.505	neutral	None	None	None	None	N
Q/G	0.5117	ambiguous	0.5255	ambiguous	-1.098	Destabilizing	0.99	D	0.452	neutral	None	None	None	None	N
Q/H	0.2609	likely_benign	0.2525	benign	-0.819	Destabilizing	0.996	D	0.383	neutral	N	0.46058337	None	None	N
Q/I	0.4052	ambiguous	0.4252	ambiguous	0.27	Stabilizing	0.884	D	0.484	neutral	None	None	None	None	N
Q/K	0.1195	likely_benign	0.1193	benign	-0.383	Destabilizing	0.967	D	0.312	neutral	N	0.411383914	None	None	N
Q/L	0.1605	likely_benign	0.1722	benign	0.27	Stabilizing	0.005	N	0.202	neutral	N	0.43761051	None	None	N
Q/M	0.3861	ambiguous	0.3944	ambiguous	0.588	Stabilizing	0.982	D	0.385	neutral	None	None	None	None	N
Q/N	0.411	ambiguous	0.4062	ambiguous	-0.986	Destabilizing	0.99	D	0.353	neutral	None	None	None	None	N
Q/P	0.8722	likely_pathogenic	0.8898	pathogenic	-0.028	Destabilizing	0.996	D	0.422	neutral	N	0.509145321	None	None	N
Q/R	0.1312	likely_benign	0.1305	benign	-0.337	Destabilizing	0.986	D	0.32	neutral	N	0.429260386	None	None	N
Q/S	0.3898	ambiguous	0.387	ambiguous	-1.131	Destabilizing	0.99	D	0.273	neutral	None	None	None	None	N
Q/T	0.2517	likely_benign	0.2517	benign	-0.804	Destabilizing	0.969	D	0.365	neutral	None	None	None	None	N
Q/V	0.2711	likely_benign	0.2897	benign	-0.028	Destabilizing	0.759	D	0.409	neutral	None	None	None	None	N
Q/W	0.6367	likely_pathogenic	0.654	pathogenic	-0.135	Destabilizing	0.999	D	0.491	neutral	None	None	None	None	N
Q/Y	0.5456	ambiguous	0.5503	ambiguous	0.089	Stabilizing	0.997	D	0.429	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.