TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5561	16906;16907;16908	chr2:178732288;178732287;178732286	chr2:179597015;179597014;179597013
N2AB	5244	15955;15956;15957	chr2:178732288;178732287;178732286	chr2:179597015;179597014;179597013
N2A	4317	13174;13175;13176	chr2:178732288;178732287;178732286	chr2:179597015;179597014;179597013
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-39
• Domain position: 19
• Structural Position: 28
• Q(SASA): 0.2507
• 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/I	rs1434244184	None	0.166	N	0.519	0.144	0.168933306366	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	0	0	0	0	0	None	0	0	1.47E-05	0	0
T/I	rs1434244184	None	0.166	N	0.519	0.144	0.168933306366	gnomAD-4.0.0	6.57324E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.47046E-05	0	0
T/N	None	None	0.491	N	0.586	0.214	0.209622950755	gnomAD-4.0.0	1.59223E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86007E-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	0.0608	likely_benign	0.0599	benign	-0.681	Destabilizing	None	N	0.154	neutral	N	0.384438802	None	None	N
T/C	0.263	likely_benign	0.2825	benign	-0.516	Destabilizing	0.901	D	0.689	prob.neutral	None	None	None	None	N
T/D	0.3594	ambiguous	0.3478	ambiguous	0.184	Stabilizing	0.561	D	0.635	neutral	None	None	None	None	N
T/E	0.282	likely_benign	0.2694	benign	0.229	Stabilizing	0.561	D	0.594	neutral	None	None	None	None	N
T/F	0.1562	likely_benign	0.1549	benign	-0.758	Destabilizing	0.818	D	0.727	prob.delet.	None	None	None	None	N
T/G	0.1632	likely_benign	0.1711	benign	-0.96	Destabilizing	0.209	N	0.543	neutral	None	None	None	None	N
T/H	0.2141	likely_benign	0.2132	benign	-1.08	Destabilizing	0.965	D	0.693	prob.neutral	None	None	None	None	N
T/I	0.1004	likely_benign	0.0969	benign	-0.023	Destabilizing	0.166	N	0.519	neutral	N	0.411953477	None	None	N
T/K	0.1849	likely_benign	0.1696	benign	-0.421	Destabilizing	0.561	D	0.585	neutral	None	None	None	None	N
T/L	0.0806	likely_benign	0.0785	benign	-0.023	Destabilizing	0.038	N	0.455	neutral	None	None	None	None	N
T/M	0.0825	likely_benign	0.0824	benign	-0.056	Destabilizing	0.047	N	0.459	neutral	None	None	None	None	N
T/N	0.133	likely_benign	0.1341	benign	-0.525	Destabilizing	0.491	N	0.586	neutral	N	0.479948434	None	None	N
T/P	0.2348	likely_benign	0.2286	benign	-0.209	Destabilizing	0.662	D	0.673	neutral	N	0.468592129	None	None	N
T/Q	0.2	likely_benign	0.195	benign	-0.52	Destabilizing	0.722	D	0.707	prob.neutral	None	None	None	None	N
T/R	0.1516	likely_benign	0.1392	benign	-0.325	Destabilizing	0.561	D	0.681	prob.neutral	None	None	None	None	N
T/S	0.0902	likely_benign	0.0919	benign	-0.855	Destabilizing	0.016	N	0.26	neutral	N	0.506231862	None	None	N
T/V	0.0905	likely_benign	0.0906	benign	-0.209	Destabilizing	0.001	N	0.165	neutral	None	None	None	None	N
T/W	0.4633	ambiguous	0.4717	ambiguous	-0.755	Destabilizing	0.991	D	0.67	neutral	None	None	None	None	N
T/Y	0.2073	likely_benign	0.2023	benign	-0.462	Destabilizing	0.901	D	0.718	prob.delet.	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.