TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	13862	41809;41810;41811	chr2:178635987;178635986;178635985	chr2:179500714;179500713;179500712
N2AB	12221	36886;36887;36888	chr2:178635987;178635986;178635985	chr2:179500714;179500713;179500712
N2A	11294	34105;34106;34107	chr2:178635987;178635986;178635985	chr2:179500714;179500713;179500712
N2B	4797	14614;14615;14616	chr2:178635987;178635986;178635985	chr2:179500714;179500713;179500712
Novex-1	4922	14989;14990;14991	chr2:178635987;178635986;178635985	chr2:179500714;179500713;179500712
Novex-2	4989	15190;15191;15192	chr2:178635987;178635986;178635985	chr2:179500714;179500713;179500712
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: C
• RefSeq wild type transcript codon: TGT
• RefSeq wild type template codon: ACA
• Domain: Ig-88
• Domain position: 83
• Structural Position: 169
• Q(SASA): 0.0575
• 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
C/S	None	None	0.991	N	0.682	0.375	0.472741223727	gnomAD-4.0.0	4.82402E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	6.33522E-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
C/A	0.8573	likely_pathogenic	0.8555	pathogenic	-1.254	Destabilizing	0.984	D	0.489	neutral	None	None	None	None	N
C/D	0.9865	likely_pathogenic	0.9854	pathogenic	0.552	Stabilizing	0.998	D	0.873	deleterious	None	None	None	None	N
C/E	0.9952	likely_pathogenic	0.9941	pathogenic	0.605	Stabilizing	0.998	D	0.885	deleterious	None	None	None	None	N
C/F	0.878	likely_pathogenic	0.8638	pathogenic	-0.906	Destabilizing	0.997	D	0.815	deleterious	N	0.353611098	None	None	N
C/G	0.7481	likely_pathogenic	0.7336	pathogenic	-1.503	Destabilizing	0.997	D	0.792	deleterious	N	0.331824206	None	None	N
C/H	0.9846	likely_pathogenic	0.9826	pathogenic	-1.604	Destabilizing	0.999	D	0.863	deleterious	None	None	None	None	N
C/I	0.9443	likely_pathogenic	0.9337	pathogenic	-0.649	Destabilizing	0.998	D	0.718	prob.delet.	None	None	None	None	N
C/K	0.9965	likely_pathogenic	0.9956	pathogenic	-0.15	Destabilizing	0.998	D	0.877	deleterious	None	None	None	None	N
C/L	0.9416	likely_pathogenic	0.9314	pathogenic	-0.649	Destabilizing	0.993	D	0.571	neutral	None	None	None	None	N
C/M	0.9473	likely_pathogenic	0.9387	pathogenic	-0.173	Destabilizing	0.999	D	0.718	prob.delet.	None	None	None	None	N
C/N	0.9578	likely_pathogenic	0.9527	pathogenic	-0.008	Destabilizing	0.998	D	0.887	deleterious	None	None	None	None	N
C/P	0.9988	likely_pathogenic	0.9987	pathogenic	-0.824	Destabilizing	0.998	D	0.887	deleterious	None	None	None	None	N
C/Q	0.9898	likely_pathogenic	0.9879	pathogenic	0.012	Stabilizing	0.998	D	0.883	deleterious	None	None	None	None	N
C/R	0.9833	likely_pathogenic	0.9799	pathogenic	-0.116	Destabilizing	0.997	D	0.889	deleterious	N	0.31842559	None	None	N
C/S	0.8364	likely_pathogenic	0.8252	pathogenic	-0.571	Destabilizing	0.991	D	0.682	prob.neutral	N	0.326017112	None	None	N
C/T	0.8217	likely_pathogenic	0.7856	pathogenic	-0.338	Destabilizing	0.993	D	0.684	prob.delet.	None	None	None	None	N
C/V	0.8615	likely_pathogenic	0.8384	pathogenic	-0.824	Destabilizing	0.993	D	0.617	neutral	None	None	None	None	N
C/W	0.9831	likely_pathogenic	0.9801	pathogenic	-0.845	Destabilizing	0.999	D	0.823	deleterious	N	0.35453482	None	None	N
C/Y	0.9479	likely_pathogenic	0.945	pathogenic	-0.765	Destabilizing	0.997	D	0.849	deleterious	N	0.353115089	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.