TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19127	57604;57605;57606	chr2:178597703;178597702;178597701	chr2:179462430;179462429;179462428
N2AB	17486	52681;52682;52683	chr2:178597703;178597702;178597701	chr2:179462430;179462429;179462428
N2A	16559	49900;49901;49902	chr2:178597703;178597702;178597701	chr2:179462430;179462429;179462428
N2B	10062	30409;30410;30411	chr2:178597703;178597702;178597701	chr2:179462430;179462429;179462428
Novex-1	10187	30784;30785;30786	chr2:178597703;178597702;178597701	chr2:179462430;179462429;179462428
Novex-2	10254	30985;30986;30987	chr2:178597703;178597702;178597701	chr2:179462430;179462429;179462428
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: Ig-117
• Domain position: 33
• Structural Position: 49
• Q(SASA): 0.2639
• 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/S	None	None	None	N	0.157	0.132	0.0297737177859	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	0.1335	likely_benign	0.15	benign	-0.978	Destabilizing	0.003	N	0.443	neutral	None	None	None	None	N
N/C	0.1359	likely_benign	0.1469	benign	-0.464	Destabilizing	None	N	0.341	neutral	None	None	None	None	N
N/D	0.1181	likely_benign	0.1572	benign	-1.651	Destabilizing	0.012	N	0.399	neutral	N	0.440969663	None	None	N
N/E	0.2056	likely_benign	0.2536	benign	-1.491	Destabilizing	0.016	N	0.369	neutral	None	None	None	None	N
N/F	0.2737	likely_benign	0.2691	benign	-0.82	Destabilizing	0.356	N	0.636	neutral	None	None	None	None	N
N/G	0.1941	likely_benign	0.2225	benign	-1.329	Destabilizing	0.016	N	0.367	neutral	None	None	None	None	N
N/H	0.0777	likely_benign	0.0818	benign	-1.003	Destabilizing	0.295	N	0.495	neutral	N	0.432984898	None	None	N
N/I	0.1217	likely_benign	0.1354	benign	-0.068	Destabilizing	0.012	N	0.497	neutral	N	0.413532345	None	None	N
N/K	0.163	likely_benign	0.2236	benign	-0.231	Destabilizing	0.012	N	0.375	neutral	N	0.382825436	None	None	N
N/L	0.125	likely_benign	0.1265	benign	-0.068	Destabilizing	0.016	N	0.491	neutral	None	None	None	None	N
N/M	0.1652	likely_benign	0.1687	benign	0.348	Stabilizing	0.356	N	0.591	neutral	None	None	None	None	N
N/P	0.9193	likely_pathogenic	0.9482	pathogenic	-0.343	Destabilizing	0.072	N	0.589	neutral	None	None	None	None	N
N/Q	0.1692	likely_benign	0.1965	benign	-1.118	Destabilizing	0.072	N	0.469	neutral	None	None	None	None	N
N/R	0.1894	likely_benign	0.2407	benign	-0.233	Destabilizing	0.072	N	0.42	neutral	None	None	None	None	N
N/S	0.0639	likely_benign	0.0672	benign	-1.135	Destabilizing	None	N	0.157	neutral	N	0.345827273	None	None	N
N/T	0.0678	likely_benign	0.0724	benign	-0.787	Destabilizing	None	N	0.184	neutral	N	0.369106777	None	None	N
N/V	0.127	likely_benign	0.1406	benign	-0.343	Destabilizing	None	N	0.357	neutral	None	None	None	None	N
N/W	0.5719	likely_pathogenic	0.5818	pathogenic	-0.637	Destabilizing	0.864	D	0.601	neutral	None	None	None	None	N
N/Y	0.1058	likely_benign	0.1072	benign	-0.313	Destabilizing	0.295	N	0.625	neutral	N	0.37554996	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.