TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31819	95680;95681;95682	chr2:178545655;178545654;178545653	chr2:179410382;179410381;179410380
N2AB	30178	90757;90758;90759	chr2:178545655;178545654;178545653	chr2:179410382;179410381;179410380
N2A	29251	87976;87977;87978	chr2:178545655;178545654;178545653	chr2:179410382;179410381;179410380
N2B	22754	68485;68486;68487	chr2:178545655;178545654;178545653	chr2:179410382;179410381;179410380
Novex-1	22879	68860;68861;68862	chr2:178545655;178545654;178545653	chr2:179410382;179410381;179410380
Novex-2	22946	69061;69062;69063	chr2:178545655;178545654;178545653	chr2:179410382;179410381;179410380
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Fn3-120
• Domain position: 13
• Structural Position: 15
• Q(SASA): 0.3037
• 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
T/P	None	None	0.033	N	0.444	0.085	0.212008924253	gnomAD-4.0.0	1.59158E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85923E-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
T/A	0.0574	likely_benign	0.056	benign	-0.855	Destabilizing	None	N	0.048	neutral	N	0.397499392	None	None	N
T/C	0.1897	likely_benign	0.1848	benign	-0.511	Destabilizing	0.245	N	0.405	neutral	None	None	None	None	N
T/D	0.3457	ambiguous	0.3119	benign	-0.833	Destabilizing	0.044	N	0.413	neutral	None	None	None	None	N
T/E	0.2411	likely_benign	0.2237	benign	-0.802	Destabilizing	0.018	N	0.369	neutral	None	None	None	None	N
T/F	0.1605	likely_benign	0.1531	benign	-0.834	Destabilizing	0.044	N	0.5	neutral	None	None	None	None	N
T/G	0.1457	likely_benign	0.1364	benign	-1.151	Destabilizing	0.009	N	0.304	neutral	None	None	None	None	N
T/H	0.1984	likely_benign	0.1886	benign	-1.492	Destabilizing	0.497	N	0.475	neutral	None	None	None	None	N
T/I	0.0729	likely_benign	0.0736	benign	-0.144	Destabilizing	None	N	0.129	neutral	N	0.344432911	None	None	N
T/K	0.1297	likely_benign	0.1258	benign	-0.826	Destabilizing	0.018	N	0.376	neutral	None	None	None	None	N
T/L	0.0816	likely_benign	0.0795	benign	-0.144	Destabilizing	0.002	N	0.251	neutral	None	None	None	None	N
T/M	0.0784	likely_benign	0.0741	benign	0.26	Stabilizing	0.138	N	0.521	neutral	None	None	None	None	N
T/N	0.1093	likely_benign	0.106	benign	-0.89	Destabilizing	0.065	N	0.363	neutral	N	0.507840521	None	None	N
T/P	0.1675	likely_benign	0.1378	benign	-0.349	Destabilizing	0.033	N	0.444	neutral	N	0.47890448	None	None	N
T/Q	0.1795	likely_benign	0.1703	benign	-1.047	Destabilizing	0.085	N	0.489	neutral	None	None	None	None	N
T/R	0.1157	likely_benign	0.1119	benign	-0.638	Destabilizing	0.044	N	0.471	neutral	None	None	None	None	N
T/S	0.0871	likely_benign	0.086	benign	-1.101	Destabilizing	0.003	N	0.273	neutral	N	0.420472252	None	None	N
T/V	0.0649	likely_benign	0.0653	benign	-0.349	Destabilizing	None	N	0.05	neutral	None	None	None	None	N
T/W	0.4759	ambiguous	0.4417	ambiguous	-0.813	Destabilizing	0.788	D	0.469	neutral	None	None	None	None	N
T/Y	0.2142	likely_benign	0.1937	benign	-0.561	Destabilizing	0.085	N	0.533	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.