TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9012	27259;27260;27261	chr2:178713100;178713099;178713098	chr2:179577827;179577826;179577825
N2AB	8695	26308;26309;26310	chr2:178713100;178713099;178713098	chr2:179577827;179577826;179577825
N2A	7768	23527;23528;23529	chr2:178713100;178713099;178713098	chr2:179577827;179577826;179577825
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: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Ig-75
• Domain position: 87
• Structural Position: 173
• Q(SASA): 0.3518
• 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
P/S	rs765386562	None	None	N	0.154	0.115	0.0920862733494	gnomAD-4.0.0	2.40064E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-06	0	3.66327E-05

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
P/A	0.0558	likely_benign	0.0564	benign	-1.263	Destabilizing	None	N	0.164	neutral	N	0.411767916	None	None	N
P/C	0.2545	likely_benign	0.2581	benign	-0.957	Destabilizing	0.245	N	0.6	neutral	None	None	None	None	N
P/D	0.2236	likely_benign	0.2597	benign	-1.29	Destabilizing	0.009	N	0.475	neutral	None	None	None	None	N
P/E	0.1484	likely_benign	0.1637	benign	-1.356	Destabilizing	0.009	N	0.421	neutral	None	None	None	None	N
P/F	0.1565	likely_benign	0.1587	benign	-1.295	Destabilizing	None	N	0.395	neutral	None	None	None	None	N
P/G	0.1649	likely_benign	0.1825	benign	-1.493	Destabilizing	0.004	N	0.384	neutral	None	None	None	None	N
P/H	0.0799	likely_benign	0.078	benign	-1.001	Destabilizing	0.108	N	0.599	neutral	N	0.401590995	None	None	N
P/I	0.1193	likely_benign	0.1257	benign	-0.762	Destabilizing	0.009	N	0.495	neutral	None	None	None	None	N
P/K	0.1051	likely_benign	0.1092	benign	-0.903	Destabilizing	None	N	0.174	neutral	None	None	None	None	N
P/L	0.0657	likely_benign	0.0694	benign	-0.762	Destabilizing	0.003	N	0.391	neutral	N	0.423331704	None	None	N
P/M	0.1579	likely_benign	0.1624	benign	-0.536	Destabilizing	0.245	N	0.604	neutral	None	None	None	None	N
P/N	0.1414	likely_benign	0.1499	benign	-0.683	Destabilizing	0.022	N	0.581	neutral	None	None	None	None	N
P/Q	0.0818	likely_benign	0.0812	benign	-0.989	Destabilizing	0.044	N	0.553	neutral	None	None	None	None	N
P/R	0.0724	likely_benign	0.0687	benign	-0.319	Destabilizing	0.017	N	0.575	neutral	N	0.384832031	None	None	N
P/S	0.0676	likely_benign	0.0705	benign	-1.127	Destabilizing	None	N	0.154	neutral	N	0.354546409	None	None	N
P/T	0.0651	likely_benign	0.07	benign	-1.095	Destabilizing	None	N	0.172	neutral	N	0.328938676	None	None	N
P/V	0.0992	likely_benign	0.1007	benign	-0.894	Destabilizing	None	N	0.249	neutral	None	None	None	None	N
P/W	0.2657	likely_benign	0.2788	benign	-1.378	Destabilizing	0.245	N	0.585	neutral	None	None	None	None	N
P/Y	0.1512	likely_benign	0.1546	benign	-1.075	Destabilizing	None	N	0.401	neutral	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.