TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17329	52210;52211;52212	chr2:178609325;178609324;178609323	chr2:179474052;179474051;179474050
N2AB	15688	47287;47288;47289	chr2:178609325;178609324;178609323	chr2:179474052;179474051;179474050
N2A	14761	44506;44507;44508	chr2:178609325;178609324;178609323	chr2:179474052;179474051;179474050
N2B	8264	25015;25016;25017	chr2:178609325;178609324;178609323	chr2:179474052;179474051;179474050
Novex-1	8389	25390;25391;25392	chr2:178609325;178609324;178609323	chr2:179474052;179474051;179474050
Novex-2	8456	25591;25592;25593	chr2:178609325;178609324;178609323	chr2:179474052;179474051;179474050
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: K
• RefSeq wild type transcript codon: AAG
• RefSeq wild type template codon: TTC
• Domain: Ig-112
• Domain position: 79
• Structural Position: 131
• Q(SASA): 0.5473
• 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/N	rs1463878310	0.309	0.055	N	0.377	0.058	0.0806252709748	gnomAD-2.1.1	4.07E-06	None	None	None	None	I	None	0	0	None	0	5.66E-05	None	0	None	0	0	0
K/N	rs1463878310	0.309	0.055	N	0.377	0.058	0.0806252709748	gnomAD-4.0.0	6.85839E-07	None	None	None	None	I	None	0	0	None	0	2.5346E-05	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
K/A	0.2008	likely_benign	0.199	benign	-0.14	Destabilizing	0.016	N	0.44	neutral	None	None	None	None	I
K/C	0.5554	ambiguous	0.528	ambiguous	-0.589	Destabilizing	0.864	D	0.345	neutral	None	None	None	None	I
K/D	0.3807	ambiguous	0.3912	ambiguous	-0.219	Destabilizing	0.038	N	0.426	neutral	None	None	None	None	I
K/E	0.1185	likely_benign	0.119	benign	-0.204	Destabilizing	None	N	0.296	neutral	N	0.463942523	None	None	I
K/F	0.5528	ambiguous	0.5467	ambiguous	-0.454	Destabilizing	0.356	N	0.374	neutral	None	None	None	None	I
K/G	0.3442	ambiguous	0.3458	ambiguous	-0.289	Destabilizing	0.072	N	0.408	neutral	None	None	None	None	I
K/H	0.2285	likely_benign	0.2187	benign	-0.359	Destabilizing	0.001	N	0.343	neutral	None	None	None	None	I
K/I	0.2157	likely_benign	0.2177	benign	0.176	Stabilizing	0.356	N	0.39	neutral	None	None	None	None	I
K/L	0.2213	likely_benign	0.213	benign	0.176	Stabilizing	0.072	N	0.459	neutral	None	None	None	None	I
K/M	0.1756	likely_benign	0.1759	benign	-0.273	Destabilizing	0.295	N	0.381	neutral	N	0.462288706	None	None	I
K/N	0.2662	likely_benign	0.2848	benign	-0.165	Destabilizing	0.055	N	0.377	neutral	N	0.500516611	None	None	I
K/P	0.213	likely_benign	0.2187	benign	0.094	Stabilizing	0.136	N	0.425	neutral	None	None	None	None	I
K/Q	0.1094	likely_benign	0.1056	benign	-0.238	Destabilizing	None	N	0.265	neutral	N	0.464193239	None	None	I
K/R	0.076	likely_benign	0.0716	benign	-0.11	Destabilizing	None	N	0.244	neutral	N	0.455957758	None	None	I
K/S	0.2938	likely_benign	0.2976	benign	-0.536	Destabilizing	0.003	N	0.303	neutral	None	None	None	None	I
K/T	0.1449	likely_benign	0.1481	benign	-0.387	Destabilizing	0.055	N	0.445	neutral	N	0.492878563	None	None	I
K/V	0.2141	likely_benign	0.2088	benign	0.094	Stabilizing	0.072	N	0.437	neutral	None	None	None	None	I
K/W	0.554	ambiguous	0.542	ambiguous	-0.559	Destabilizing	0.864	D	0.366	neutral	None	None	None	None	I
K/Y	0.4135	ambiguous	0.402	ambiguous	-0.207	Destabilizing	0.214	N	0.399	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.