TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30686	92281;92282;92283	chr2:178549666;178549665;178549664	chr2:179414393;179414392;179414391
N2AB	29045	87358;87359;87360	chr2:178549666;178549665;178549664	chr2:179414393;179414392;179414391
N2A	28118	84577;84578;84579	chr2:178549666;178549665;178549664	chr2:179414393;179414392;179414391
N2B	21621	65086;65087;65088	chr2:178549666;178549665;178549664	chr2:179414393;179414392;179414391
Novex-1	21746	65461;65462;65463	chr2:178549666;178549665;178549664	chr2:179414393;179414392;179414391
Novex-2	21813	65662;65663;65664	chr2:178549666;178549665;178549664	chr2:179414393;179414392;179414391
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Fn3-111
• Domain position: 68
• Structural Position: 99
• Q(SASA): 0.5787
• 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
N/I	None	None	0.029	N	0.481	0.069	0.211220785272	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
N/A	0.0838	likely_benign	0.0935	benign	-0.459	Destabilizing	0.007	N	0.207	neutral	None	None	None	None	N
N/C	0.1288	likely_benign	0.1329	benign	0.343	Stabilizing	0.676	D	0.418	neutral	None	None	None	None	N
N/D	0.1103	likely_benign	0.1341	benign	-0.244	Destabilizing	0.024	N	0.359	neutral	N	0.452891315	None	None	N
N/E	0.1698	likely_benign	0.1868	benign	-0.281	Destabilizing	0.016	N	0.301	neutral	None	None	None	None	N
N/F	0.3202	likely_benign	0.3989	ambiguous	-0.814	Destabilizing	0.356	N	0.454	neutral	None	None	None	None	N
N/G	0.144	likely_benign	0.1645	benign	-0.637	Destabilizing	0.016	N	0.301	neutral	None	None	None	None	N
N/H	0.062	likely_benign	0.0692	benign	-0.712	Destabilizing	0.295	N	0.453	neutral	N	0.479461841	None	None	N
N/I	0.1283	likely_benign	0.1408	benign	-0.07	Destabilizing	0.029	N	0.481	neutral	N	0.457009055	None	None	N
N/K	0.0898	likely_benign	0.0969	benign	0.035	Stabilizing	None	N	0.043	neutral	N	0.361693307	None	None	N
N/L	0.1103	likely_benign	0.1306	benign	-0.07	Destabilizing	0.016	N	0.313	neutral	None	None	None	None	N
N/M	0.1604	likely_benign	0.1774	benign	0.47	Stabilizing	0.356	N	0.434	neutral	None	None	None	None	N
N/P	0.1458	likely_benign	0.1496	benign	-0.174	Destabilizing	0.136	N	0.441	neutral	None	None	None	None	N
N/Q	0.1201	likely_benign	0.1297	benign	-0.537	Destabilizing	0.038	N	0.358	neutral	None	None	None	None	N
N/R	0.1002	likely_benign	0.1087	benign	0.151	Stabilizing	0.016	N	0.324	neutral	None	None	None	None	N
N/S	0.0588	likely_benign	0.0602	benign	-0.215	Destabilizing	None	N	0.077	neutral	N	0.416815871	None	None	N
N/T	0.0675	likely_benign	0.0714	benign	-0.112	Destabilizing	None	N	0.044	neutral	N	0.416815871	None	None	N
N/V	0.1217	likely_benign	0.1321	benign	-0.174	Destabilizing	0.016	N	0.336	neutral	None	None	None	None	N
N/W	0.4946	ambiguous	0.5521	ambiguous	-0.749	Destabilizing	0.864	D	0.415	neutral	None	None	None	None	N
N/Y	0.1105	likely_benign	0.1231	benign	-0.5	Destabilizing	0.295	N	0.461	neutral	N	0.479461841	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.