TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	21902	65929;65930;65931	chr2:178583099;178583098;178583097	chr2:179447826;179447825;179447824
N2AB	20261	61006;61007;61008	chr2:178583099;178583098;178583097	chr2:179447826;179447825;179447824
N2A	19334	58225;58226;58227	chr2:178583099;178583098;178583097	chr2:179447826;179447825;179447824
N2B	12837	38734;38735;38736	chr2:178583099;178583098;178583097	chr2:179447826;179447825;179447824
Novex-1	12962	39109;39110;39111	chr2:178583099;178583098;178583097	chr2:179447826;179447825;179447824
Novex-2	13029	39310;39311;39312	chr2:178583099;178583098;178583097	chr2:179447826;179447825;179447824
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-125
• Domain position: 37
• Structural Position: 55
• Q(SASA): 0.4427
• 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/A	None	None	None	N	0.109	0.129	0.152612264143	gnomAD-4.0.0	6.85218E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.16268E-05	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	0.0647	likely_benign	0.0639	benign	-0.363	Destabilizing	None	N	0.109	neutral	N	0.429161598	None	None	N
T/C	0.2032	likely_benign	0.1935	benign	-0.32	Destabilizing	0.781	D	0.305	neutral	None	None	None	None	N
T/D	0.1744	likely_benign	0.1827	benign	0.369	Stabilizing	0.033	N	0.347	neutral	None	None	None	None	N
T/E	0.1365	likely_benign	0.1393	benign	0.307	Stabilizing	None	N	0.158	neutral	None	None	None	None	N
T/F	0.1257	likely_benign	0.1152	benign	-0.819	Destabilizing	0.142	N	0.479	neutral	None	None	None	None	N
T/G	0.1551	likely_benign	0.1515	benign	-0.506	Destabilizing	0.033	N	0.335	neutral	None	None	None	None	N
T/H	0.1214	likely_benign	0.111	benign	-0.728	Destabilizing	0.54	D	0.38	neutral	None	None	None	None	N
T/I	0.0679	likely_benign	0.0655	benign	-0.107	Destabilizing	None	N	0.197	neutral	N	0.42498793	None	None	N
T/K	0.0979	likely_benign	0.0929	benign	-0.331	Destabilizing	0.025	N	0.347	neutral	N	0.402185641	None	None	N
T/L	0.0662	likely_benign	0.0627	benign	-0.107	Destabilizing	None	N	0.159	neutral	None	None	None	None	N
T/M	0.07	likely_benign	0.0662	benign	-0.054	Destabilizing	0.006	N	0.239	neutral	None	None	None	None	N
T/N	0.0651	likely_benign	0.0652	benign	-0.178	Destabilizing	0.142	N	0.208	neutral	None	None	None	None	N
T/P	0.2252	likely_benign	0.2254	benign	-0.163	Destabilizing	0.202	N	0.377	neutral	N	0.489807412	None	None	N
T/Q	0.1052	likely_benign	0.1	benign	-0.348	Destabilizing	0.076	N	0.374	neutral	None	None	None	None	N
T/R	0.1	likely_benign	0.0934	benign	-0.083	Destabilizing	0.111	N	0.374	neutral	N	0.409306401	None	None	N
T/S	0.0771	likely_benign	0.0764	benign	-0.419	Destabilizing	0.025	N	0.21	neutral	N	0.432833835	None	None	N
T/V	0.0677	likely_benign	0.0658	benign	-0.163	Destabilizing	None	N	0.107	neutral	None	None	None	None	N
T/W	0.4013	ambiguous	0.3838	ambiguous	-0.839	Destabilizing	0.931	D	0.381	neutral	None	None	None	None	N
T/Y	0.146	likely_benign	0.1416	benign	-0.547	Destabilizing	0.54	D	0.471	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.