TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	27123	81592;81593;81594	chr2:178564765;178564764;178564763	chr2:179429492;179429491;179429490
N2AB	25482	76669;76670;76671	chr2:178564765;178564764;178564763	chr2:179429492;179429491;179429490
N2A	24555	73888;73889;73890	chr2:178564765;178564764;178564763	chr2:179429492;179429491;179429490
N2B	18058	54397;54398;54399	chr2:178564765;178564764;178564763	chr2:179429492;179429491;179429490
Novex-1	18183	54772;54773;54774	chr2:178564765;178564764;178564763	chr2:179429492;179429491;179429490
Novex-2	18250	54973;54974;54975	chr2:178564765;178564764;178564763	chr2:179429492;179429491;179429490
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Fn3-85
• Domain position: 52
• Structural Position: 69
• Q(SASA): 0.156
• 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	rs1170042602	None	0.999	N	0.581	0.393	0.272639205421	gnomAD-4.0.0	4.80129E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.25001E-06	0	0
N/T	None	None	0.999	N	0.681	0.433	0.319686207203	gnomAD-4.0.0	4.80129E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.25001E-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	0.7776	likely_pathogenic	0.7702	pathogenic	-0.96	Destabilizing	1.0	D	0.663	neutral	None	None	None	None	N
N/C	0.4562	ambiguous	0.4583	ambiguous	-0.093	Destabilizing	1.0	D	0.734	prob.delet.	None	None	None	None	N
N/D	0.7981	likely_pathogenic	0.7646	pathogenic	-1.104	Destabilizing	0.999	D	0.62	neutral	N	0.488031462	None	None	N
N/E	0.9649	likely_pathogenic	0.9616	pathogenic	-0.879	Destabilizing	0.999	D	0.697	prob.neutral	None	None	None	None	N
N/F	0.976	likely_pathogenic	0.9756	pathogenic	-0.428	Destabilizing	1.0	D	0.775	deleterious	None	None	None	None	N
N/G	0.6161	likely_pathogenic	0.6025	pathogenic	-1.396	Destabilizing	0.999	D	0.567	neutral	None	None	None	None	N
N/H	0.5561	ambiguous	0.5467	ambiguous	-0.94	Destabilizing	1.0	D	0.756	deleterious	N	0.48929891	None	None	N
N/I	0.8705	likely_pathogenic	0.8762	pathogenic	0.206	Stabilizing	1.0	D	0.765	deleterious	N	0.487132863	None	None	N
N/K	0.9763	likely_pathogenic	0.9734	pathogenic	-0.164	Destabilizing	1.0	D	0.72	prob.delet.	N	0.484815458	None	None	N
N/L	0.8081	likely_pathogenic	0.8023	pathogenic	0.206	Stabilizing	1.0	D	0.745	deleterious	None	None	None	None	N
N/M	0.8629	likely_pathogenic	0.8526	pathogenic	0.499	Stabilizing	1.0	D	0.721	prob.delet.	None	None	None	None	N
N/P	0.9421	likely_pathogenic	0.937	pathogenic	-0.153	Destabilizing	1.0	D	0.739	prob.delet.	None	None	None	None	N
N/Q	0.9056	likely_pathogenic	0.8953	pathogenic	-0.691	Destabilizing	1.0	D	0.765	deleterious	None	None	None	None	N
N/R	0.96	likely_pathogenic	0.9548	pathogenic	-0.457	Destabilizing	1.0	D	0.745	deleterious	None	None	None	None	N
N/S	0.1378	likely_benign	0.1281	benign	-1.127	Destabilizing	0.999	D	0.581	neutral	N	0.46772148	None	None	N
N/T	0.3357	likely_benign	0.2762	benign	-0.687	Destabilizing	0.999	D	0.681	prob.neutral	N	0.508320523	None	None	N
N/V	0.8003	likely_pathogenic	0.8112	pathogenic	-0.153	Destabilizing	1.0	D	0.759	deleterious	None	None	None	None	N
N/W	0.989	likely_pathogenic	0.989	pathogenic	-0.26	Destabilizing	1.0	D	0.721	prob.delet.	None	None	None	None	N
N/Y	0.8604	likely_pathogenic	0.855	pathogenic	0.044	Stabilizing	1.0	D	0.746	deleterious	N	0.496642744	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.