TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6535	19828;19829;19830	chr2:178728221;178728220;178728219	chr2:179592948;179592947;179592946
N2AB	6218	18877;18878;18879	chr2:178728221;178728220;178728219	chr2:179592948;179592947;179592946
N2A	5291	16096;16097;16098	chr2:178728221;178728220;178728219	chr2:179592948;179592947;179592946
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: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Ig-49
• Domain position: 55
• Structural Position: 135
• Q(SASA): 0.2769
• 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
S/T	None	None	None	N	0.133	0.106	0.101711395817	gnomAD-4.0.0	6.84502E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99735E-07	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
S/A	0.0822	likely_benign	0.0785	benign	-0.492	Destabilizing	0.005	N	0.219	neutral	N	0.50481415	None	None	N
S/C	0.1409	likely_benign	0.1569	benign	-0.55	Destabilizing	0.295	N	0.577	neutral	N	0.490127009	None	None	N
S/D	0.2564	likely_benign	0.2357	benign	-0.991	Destabilizing	0.072	N	0.421	neutral	None	None	None	None	N
S/E	0.3562	ambiguous	0.3262	benign	-0.98	Destabilizing	0.072	N	0.411	neutral	None	None	None	None	N
S/F	0.1563	likely_benign	0.1473	benign	-0.619	Destabilizing	0.171	N	0.628	neutral	N	0.515089859	None	None	N
S/G	0.1149	likely_benign	0.1114	benign	-0.753	Destabilizing	0.031	N	0.437	neutral	None	None	None	None	N
S/H	0.2575	likely_benign	0.2449	benign	-1.367	Destabilizing	0.628	D	0.576	neutral	None	None	None	None	N
S/I	0.1176	likely_benign	0.1143	benign	0.095	Stabilizing	0.038	N	0.601	neutral	None	None	None	None	N
S/K	0.4623	ambiguous	0.4272	ambiguous	-0.926	Destabilizing	0.072	N	0.411	neutral	None	None	None	None	N
S/L	0.0959	likely_benign	0.0949	benign	0.095	Stabilizing	None	N	0.276	neutral	None	None	None	None	N
S/M	0.1271	likely_benign	0.13	benign	0.347	Stabilizing	0.214	N	0.585	neutral	None	None	None	None	N
S/N	0.0933	likely_benign	0.0896	benign	-1.004	Destabilizing	0.072	N	0.429	neutral	None	None	None	None	N
S/P	0.5834	likely_pathogenic	0.5323	ambiguous	-0.066	Destabilizing	0.106	N	0.573	neutral	N	0.501394409	None	None	N
S/Q	0.4025	ambiguous	0.3753	ambiguous	-1.148	Destabilizing	0.356	N	0.512	neutral	None	None	None	None	N
S/R	0.376	ambiguous	0.3386	benign	-0.834	Destabilizing	0.072	N	0.579	neutral	None	None	None	None	N
S/T	0.0536	likely_benign	0.0547	benign	-0.861	Destabilizing	None	N	0.133	neutral	N	0.417387167	None	None	N
S/V	0.1334	likely_benign	0.1307	benign	-0.066	Destabilizing	0.016	N	0.523	neutral	None	None	None	None	N
S/W	0.2515	likely_benign	0.2285	benign	-0.702	Destabilizing	0.864	D	0.644	neutral	None	None	None	None	N
S/Y	0.1428	likely_benign	0.1392	benign	-0.403	Destabilizing	0.295	N	0.619	neutral	N	0.514743142	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.