TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18680	56263;56264;56265	chr2:178600866;178600865;178600864	chr2:179465593;179465592;179465591
N2AB	17039	51340;51341;51342	chr2:178600866;178600865;178600864	chr2:179465593;179465592;179465591
N2A	16112	48559;48560;48561	chr2:178600866;178600865;178600864	chr2:179465593;179465592;179465591
N2B	9615	29068;29069;29070	chr2:178600866;178600865;178600864	chr2:179465593;179465592;179465591
Novex-1	9740	29443;29444;29445	chr2:178600866;178600865;178600864	chr2:179465593;179465592;179465591
Novex-2	9807	29644;29645;29646	chr2:178600866;178600865;178600864	chr2:179465593;179465592;179465591
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: Fn3-23
• Domain position: 102
• Structural Position: 131
• Q(SASA): 0.5178
• 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
K/E	None	None	None	N	None	0.17	None	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
K/A	0.4224	ambiguous	0.3979	ambiguous	-0.268	Destabilizing	None	None	None	None	None	None	None	None	N
K/C	0.6647	likely_pathogenic	0.6681	pathogenic	-0.392	Destabilizing	None	None	None	None	None	None	None	None	N
K/D	0.7834	likely_pathogenic	0.7517	pathogenic	-0.045	Destabilizing	None	None	None	None	None	None	None	None	N
K/E	0.208	likely_benign	0.1936	benign	0.021	Stabilizing	None	None	None	None	N	0.466459897	None	None	N
K/F	0.7992	likely_pathogenic	0.7826	pathogenic	-0.098	Destabilizing	None	None	None	None	None	None	None	None	N
K/G	0.6348	likely_pathogenic	0.588	pathogenic	-0.587	Destabilizing	None	None	None	None	None	None	None	None	N
K/H	0.3824	ambiguous	0.3552	ambiguous	-0.951	Destabilizing	None	None	None	None	None	None	None	None	N
K/I	0.3279	likely_benign	0.3255	benign	0.531	Stabilizing	None	None	None	None	N	0.482632504	None	None	N
K/L	0.4093	ambiguous	0.386	ambiguous	0.531	Stabilizing	None	None	None	None	None	None	None	None	N
K/M	0.2286	likely_benign	0.2192	benign	0.366	Stabilizing	None	None	None	None	None	None	None	None	N
K/N	0.5743	likely_pathogenic	0.5302	ambiguous	-0.184	Destabilizing	None	None	None	None	N	0.51472641	None	None	N
K/P	0.9575	likely_pathogenic	0.9481	pathogenic	0.296	Stabilizing	None	None	None	None	None	None	None	None	N
K/Q	0.143	likely_benign	0.1326	benign	-0.326	Destabilizing	0.012	N	0.51	neutral	N	0.509299171	None	None	N
K/R	0.0905	likely_benign	0.0873	benign	-0.441	Destabilizing	None	None	None	None	N	0.493388356	None	None	N
K/S	0.5116	ambiguous	0.4805	ambiguous	-0.771	Destabilizing	None	None	None	None	None	None	None	None	N
K/T	0.1909	likely_benign	0.1799	benign	-0.521	Destabilizing	None	None	None	None	N	0.4785179	None	None	N
K/V	0.2969	likely_benign	0.303	benign	0.296	Stabilizing	None	None	None	None	None	None	None	None	N
K/W	0.7993	likely_pathogenic	0.7781	pathogenic	-0.001	Destabilizing	None	None	None	None	None	None	None	None	N
K/Y	0.7223	likely_pathogenic	0.7026	pathogenic	0.299	Stabilizing	None	None	None	None	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.