TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14869	44830;44831;44832	chr2:178624675;178624674;178624673	chr2:179489402;179489401;179489400
N2AB	13228	39907;39908;39909	chr2:178624675;178624674;178624673	chr2:179489402;179489401;179489400
N2A	12301	37126;37127;37128	chr2:178624675;178624674;178624673	chr2:179489402;179489401;179489400
N2B	5804	17635;17636;17637	chr2:178624675;178624674;178624673	chr2:179489402;179489401;179489400
Novex-1	5929	18010;18011;18012	chr2:178624675;178624674;178624673	chr2:179489402;179489401;179489400
Novex-2	5996	18211;18212;18213	chr2:178624675;178624674;178624673	chr2:179489402;179489401;179489400
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: Ig-100
• Domain position: 17
• Structural Position: 26
• Q(SASA): 0.6482
• 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/S	None	None	0.958	N	0.359	0.236	0.256793551483	gnomAD-4.0.0	1.20036E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.31254E-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	0.1022	likely_benign	0.1029	benign	-0.624	Destabilizing	0.958	D	0.376	neutral	N	0.508205632	None	None	N
T/C	0.6579	likely_pathogenic	0.6834	pathogenic	-0.213	Destabilizing	1.0	D	0.715	prob.delet.	None	None	None	None	N
T/D	0.3927	ambiguous	0.4454	ambiguous	-0.173	Destabilizing	0.086	N	0.31	neutral	None	None	None	None	N
T/E	0.334	likely_benign	0.3415	ambiguous	-0.198	Destabilizing	0.938	D	0.552	neutral	None	None	None	None	N
T/F	0.3824	ambiguous	0.4067	ambiguous	-0.756	Destabilizing	0.998	D	0.791	deleterious	None	None	None	None	N
T/G	0.3541	ambiguous	0.4026	ambiguous	-0.856	Destabilizing	0.968	D	0.619	neutral	None	None	None	None	N
T/H	0.3876	ambiguous	0.4268	ambiguous	-1.086	Destabilizing	1.0	D	0.759	deleterious	None	None	None	None	N
T/I	0.28	likely_benign	0.2618	benign	-0.104	Destabilizing	0.994	D	0.752	deleterious	D	0.607540268	None	None	N
T/K	0.2258	likely_benign	0.2244	benign	-0.683	Destabilizing	0.991	D	0.676	prob.neutral	None	None	None	None	N
T/L	0.1563	likely_benign	0.1591	benign	-0.104	Destabilizing	0.984	D	0.604	neutral	None	None	None	None	N
T/M	0.1341	likely_benign	0.1198	benign	0.17	Stabilizing	1.0	D	0.722	prob.delet.	None	None	None	None	N
T/N	0.1683	likely_benign	0.1889	benign	-0.464	Destabilizing	0.976	D	0.594	neutral	N	0.516305953	None	None	N
T/P	0.1674	likely_benign	0.1735	benign	-0.246	Destabilizing	0.994	D	0.746	deleterious	N	0.516766627	None	None	N
T/Q	0.2918	likely_benign	0.3095	benign	-0.636	Destabilizing	0.995	D	0.747	deleterious	None	None	None	None	N
T/R	0.1863	likely_benign	0.1884	benign	-0.385	Destabilizing	0.995	D	0.745	deleterious	None	None	None	None	N
T/S	0.1337	likely_benign	0.1504	benign	-0.697	Destabilizing	0.958	D	0.359	neutral	N	0.467777208	None	None	N
T/V	0.1938	likely_benign	0.1888	benign	-0.246	Destabilizing	0.984	D	0.503	neutral	None	None	None	None	N
T/W	0.738	likely_pathogenic	0.7628	pathogenic	-0.741	Destabilizing	1.0	D	0.771	deleterious	None	None	None	None	N
T/Y	0.4545	ambiguous	0.4883	ambiguous	-0.519	Destabilizing	0.998	D	0.78	deleterious	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.