TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9333	28222;28223;28224	chr2:178711239;178711238;178711237	chr2:179575966;179575965;179575964
N2AB	9016	27271;27272;27273	chr2:178711239;178711238;178711237	chr2:179575966;179575965;179575964
N2A	8089	24490;24491;24492	chr2:178711239;178711238;178711237	chr2:179575966;179575965;179575964
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-79
• Domain position: 33
• Structural Position: 47
• Q(SASA): 0.3791
• 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/C	None	None	0.965	None	0.643	0.608	0.729836406417	gnomAD-4.0.0	1.59109E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43283E-05	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	0.0993	likely_benign	0.0933	benign	-0.775	Destabilizing	0.003	N	0.301	neutral	None	None	None	None	N
S/C	0.1622	likely_benign	0.1525	benign	-0.404	Destabilizing	0.965	D	0.643	neutral	None	None	None	None	N
S/D	0.3979	ambiguous	0.4055	ambiguous	0.015	Stabilizing	0.575	D	0.511	neutral	None	None	None	None	N
S/E	0.4597	ambiguous	0.4565	ambiguous	0.016	Stabilizing	0.575	D	0.507	neutral	None	None	None	None	N
S/F	0.135	likely_benign	0.1231	benign	-0.982	Destabilizing	0.879	D	0.723	prob.delet.	None	None	None	None	N
S/G	0.1535	likely_benign	0.161	benign	-1.023	Destabilizing	0.404	N	0.535	neutral	None	None	None	None	N
S/H	0.2875	likely_benign	0.2682	benign	-1.384	Destabilizing	0.991	D	0.645	neutral	None	None	None	None	N
S/I	0.1423	likely_benign	0.1308	benign	-0.223	Destabilizing	0.704	D	0.697	prob.neutral	None	None	None	None	N
S/K	0.5886	likely_pathogenic	0.5848	pathogenic	-0.599	Destabilizing	0.575	D	0.509	neutral	None	None	None	None	N
S/L	0.1053	likely_benign	0.0924	benign	-0.223	Destabilizing	0.404	N	0.627	neutral	None	None	None	None	N
S/M	0.196	likely_benign	0.171	benign	-0.007	Destabilizing	0.973	D	0.653	neutral	None	None	None	None	N
S/N	0.1514	likely_benign	0.1516	benign	-0.54	Destabilizing	0.575	D	0.529	neutral	None	None	None	None	N
S/P	0.9365	likely_pathogenic	0.938	pathogenic	-0.373	Destabilizing	0.879	D	0.657	neutral	None	None	None	None	N
S/Q	0.4302	ambiguous	0.4159	ambiguous	-0.638	Destabilizing	0.906	D	0.541	neutral	None	None	None	None	N
S/R	0.4793	ambiguous	0.4816	ambiguous	-0.488	Destabilizing	0.826	D	0.657	neutral	None	None	None	None	N
S/T	0.0833	likely_benign	0.081	benign	-0.581	Destabilizing	0.003	N	0.377	neutral	None	None	None	None	N
S/V	0.1587	likely_benign	0.143	benign	-0.373	Destabilizing	0.404	N	0.634	neutral	None	None	None	None	N
S/W	0.3216	likely_benign	0.3243	benign	-0.964	Destabilizing	0.991	D	0.705	prob.neutral	None	None	None	None	N
S/Y	0.1577	likely_benign	0.1544	benign	-0.699	Destabilizing	0.879	D	0.726	prob.delet.	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.