TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7051	21376;21377;21378	chr2:178724108;178724107;178724106	chr2:179588835;179588834;179588833
N2AB	6734	20425;20426;20427	chr2:178724108;178724107;178724106	chr2:179588835;179588834;179588833
N2A	5807	17644;17645;17646	chr2:178724108;178724107;178724106	chr2:179588835;179588834;179588833
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: K
• RefSeq wild type transcript codon: AAA
• RefSeq wild type template codon: TTT
• Domain: Ig-55
• Domain position: 8
• Structural Position: 9
• Q(SASA): 0.7156
• Predicted PPI site: I

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
K/R	None	None	0.01	N	0.224	0.079	0.352262096564	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	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
K/A	0.4071	ambiguous	0.3492	ambiguous	0.062	Stabilizing	0.648	D	0.585	neutral	None	None	None	None	I
K/C	0.7706	likely_pathogenic	0.7005	pathogenic	-0.295	Destabilizing	0.993	D	0.722	prob.delet.	None	None	None	None	I
K/D	0.6219	likely_pathogenic	0.5557	ambiguous	-0.209	Destabilizing	0.866	D	0.725	prob.delet.	None	None	None	None	I
K/E	0.1761	likely_benign	0.135	benign	-0.22	Destabilizing	0.41	N	0.514	neutral	D	0.535099772	None	None	I
K/F	0.7982	likely_pathogenic	0.7428	pathogenic	-0.226	Destabilizing	0.98	D	0.699	prob.neutral	None	None	None	None	I
K/G	0.4408	ambiguous	0.3789	ambiguous	-0.09	Destabilizing	0.866	D	0.575	neutral	None	None	None	None	I
K/H	0.3539	ambiguous	0.3078	benign	-0.253	Destabilizing	0.98	D	0.695	prob.neutral	None	None	None	None	I
K/I	0.4298	ambiguous	0.3623	ambiguous	0.381	Stabilizing	0.908	D	0.727	prob.delet.	N	0.498017502	None	None	I
K/L	0.4233	ambiguous	0.3424	ambiguous	0.381	Stabilizing	0.866	D	0.575	neutral	None	None	None	None	I
K/M	0.3012	likely_benign	0.2657	benign	0.063	Stabilizing	0.993	D	0.701	prob.neutral	None	None	None	None	I
K/N	0.4514	ambiguous	0.3917	ambiguous	0.148	Stabilizing	0.83	D	0.65	neutral	N	0.501207053	None	None	I
K/P	0.7123	likely_pathogenic	0.6936	pathogenic	0.3	Stabilizing	0.929	D	0.729	prob.delet.	None	None	None	None	I
K/Q	0.1225	likely_benign	0.1042	benign	-0.02	Destabilizing	0.709	D	0.637	neutral	N	0.513551064	None	None	I
K/R	0.0803	likely_benign	0.075	benign	-0.049	Destabilizing	0.01	N	0.224	neutral	N	0.495426663	None	None	I
K/S	0.4387	ambiguous	0.3785	ambiguous	-0.237	Destabilizing	0.648	D	0.58	neutral	None	None	None	None	I
K/T	0.235	likely_benign	0.2024	benign	-0.124	Destabilizing	0.83	D	0.682	prob.neutral	N	0.518188879	None	None	I
K/V	0.4147	ambiguous	0.3445	ambiguous	0.3	Stabilizing	0.866	D	0.692	prob.neutral	None	None	None	None	I
K/W	0.7207	likely_pathogenic	0.6511	pathogenic	-0.302	Destabilizing	0.993	D	0.725	prob.delet.	None	None	None	None	I
K/Y	0.6679	likely_pathogenic	0.5999	pathogenic	0.052	Stabilizing	0.929	D	0.691	prob.neutral	None	None	None	None	I

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.