TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	35313	106162;106163;106164	chr2:178530678;178530677;178530676	chr2:179395405;179395404;179395403
N2AB	33672	101239;101240;101241	chr2:178530678;178530677;178530676	chr2:179395405;179395404;179395403
N2A	32745	98458;98459;98460	chr2:178530678;178530677;178530676	chr2:179395405;179395404;179395403
N2B	26248	78967;78968;78969	chr2:178530678;178530677;178530676	chr2:179395405;179395404;179395403
Novex-1	26373	79342;79343;79344	chr2:178530678;178530677;178530676	chr2:179395405;179395404;179395403
Novex-2	26440	79543;79544;79545	chr2:178530678;178530677;178530676	chr2:179395405;179395404;179395403
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: R
• RefSeq wild type transcript codon: AGG
• RefSeq wild type template codon: TCC
• Domain: Ig-165
• Domain position: 28
• Structural Position: 42
• Q(SASA): 0.6885
• Predicted PPI site: I

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
R/G	None	None	0.001	N	0.187	0.092	0.208000267992	gnomAD-4.0.0	2.40064E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.625E-06	0	0
R/S	rs1688720188	None	None	N	0.097	0.1	0.0716867268079	gnomAD-4.0.0	6.84136E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.99392E-07	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
R/A	0.0932	likely_benign	0.0965	benign	0.151	Stabilizing	0.002	N	0.169	neutral	None	None	None	None	I
R/C	0.0503	likely_benign	0.0532	benign	-0.01	Destabilizing	None	N	0.121	neutral	None	None	None	None	I
R/D	0.1702	likely_benign	0.187	benign	-0.1	Destabilizing	0.004	N	0.275	neutral	None	None	None	None	I
R/E	0.1642	likely_benign	0.168	benign	-0.035	Destabilizing	0.004	N	0.263	neutral	None	None	None	None	I
R/F	0.1794	likely_benign	0.1954	benign	-0.043	Destabilizing	0.085	N	0.47	neutral	None	None	None	None	I
R/G	0.063	likely_benign	0.063	benign	-0.042	Destabilizing	0.001	N	0.187	neutral	N	0.441050673	None	None	I
R/H	0.0663	likely_benign	0.0664	benign	-0.573	Destabilizing	0.245	N	0.4	neutral	None	None	None	None	I
R/I	0.1211	likely_benign	0.1163	benign	0.623	Stabilizing	0.018	N	0.327	neutral	None	None	None	None	I
R/K	0.1059	likely_benign	0.1015	benign	0.066	Stabilizing	0.003	N	0.221	neutral	N	0.450728949	None	None	I
R/L	0.0983	likely_benign	0.0976	benign	0.623	Stabilizing	0.004	N	0.221	neutral	None	None	None	None	I
R/M	0.1498	likely_benign	0.1409	benign	0.112	Stabilizing	0.427	N	0.386	neutral	N	0.495655949	None	None	I
R/N	0.1287	likely_benign	0.1338	benign	0.262	Stabilizing	None	N	0.084	neutral	None	None	None	None	I
R/P	0.1518	likely_benign	0.1749	benign	0.486	Stabilizing	0.018	N	0.345	neutral	None	None	None	None	I
R/Q	0.0793	likely_benign	0.0792	benign	0.197	Stabilizing	0.018	N	0.352	neutral	None	None	None	None	I
R/S	0.0799	likely_benign	0.0817	benign	0.003	Stabilizing	None	N	0.097	neutral	N	0.405380662	None	None	I
R/T	0.0801	likely_benign	0.078	benign	0.197	Stabilizing	0.001	N	0.199	neutral	N	0.44692064	None	None	I
R/V	0.1461	likely_benign	0.1474	benign	0.486	Stabilizing	0.009	N	0.301	neutral	None	None	None	None	I
R/W	0.125	likely_benign	0.1259	benign	-0.147	Destabilizing	0.737	D	0.329	neutral	N	0.476974188	None	None	I
R/Y	0.1186	likely_benign	0.1249	benign	0.265	Stabilizing	0.085	N	0.453	neutral	None	None	None	None	I

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.