TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5513	16762;16763;16764	chr2:178732524;178732523;178732522	chr2:179597251;179597250;179597249
N2AB	5196	15811;15812;15813	chr2:178732524;178732523;178732522	chr2:179597251;179597250;179597249
N2A	4269	13030;13031;13032	chr2:178732524;178732523;178732522	chr2:179597251;179597250;179597249
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: K
• RefSeq wild type transcript codon: AAA
• RefSeq wild type template codon: TTT
• Domain: Ig-38
• Domain position: 64
• Structural Position: 145
• Q(SASA): 0.4121
• 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
K/N	None	None	0.018	N	0.253	0.098	0.0954503805726	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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
K/A	0.3082	likely_benign	0.3519	ambiguous	-0.053	Destabilizing	0.775	D	0.497	neutral	None	None	None	None	I
K/C	0.7293	likely_pathogenic	0.7692	pathogenic	-0.202	Destabilizing	0.996	D	0.725	prob.delet.	None	None	None	None	I
K/D	0.355	ambiguous	0.4079	ambiguous	0.325	Stabilizing	0.858	D	0.535	neutral	None	None	None	None	I
K/E	0.1278	likely_benign	0.1458	benign	0.346	Stabilizing	0.722	D	0.483	neutral	N	0.445592488	None	None	I
K/F	0.7945	likely_pathogenic	0.8487	pathogenic	-0.221	Destabilizing	0.923	D	0.691	prob.neutral	None	None	None	None	I
K/G	0.2875	likely_benign	0.3307	benign	-0.279	Destabilizing	0.633	D	0.569	neutral	None	None	None	None	I
K/H	0.2784	likely_benign	0.304	benign	-0.616	Destabilizing	0.923	D	0.589	neutral	None	None	None	None	I
K/I	0.5652	likely_pathogenic	0.6341	pathogenic	0.469	Stabilizing	0.82	D	0.655	neutral	N	0.52090111	None	None	I
K/L	0.4179	ambiguous	0.4947	ambiguous	0.469	Stabilizing	0.011	N	0.336	neutral	None	None	None	None	I
K/M	0.2811	likely_benign	0.3316	benign	0.333	Stabilizing	0.923	D	0.592	neutral	None	None	None	None	I
K/N	0.2446	likely_benign	0.2736	benign	0.269	Stabilizing	0.018	N	0.253	neutral	N	0.493386435	None	None	I
K/P	0.7512	likely_pathogenic	0.8028	pathogenic	0.325	Stabilizing	0.987	D	0.583	neutral	None	None	None	None	I
K/Q	0.1075	likely_benign	0.1133	benign	0.09	Stabilizing	0.901	D	0.545	neutral	N	0.442688256	None	None	I
K/R	0.0891	likely_benign	0.0951	benign	-0.021	Destabilizing	0.008	N	0.292	neutral	N	0.471376367	None	None	I
K/S	0.267	likely_benign	0.303	benign	-0.318	Destabilizing	0.633	D	0.443	neutral	None	None	None	None	I
K/T	0.1525	likely_benign	0.1746	benign	-0.134	Destabilizing	0.722	D	0.548	neutral	N	0.459639221	None	None	I
K/V	0.4754	ambiguous	0.5423	ambiguous	0.325	Stabilizing	0.633	D	0.553	neutral	None	None	None	None	I
K/W	0.7894	likely_pathogenic	0.8423	pathogenic	-0.187	Destabilizing	0.996	D	0.77	deleterious	None	None	None	None	I
K/Y	0.667	likely_pathogenic	0.7344	pathogenic	0.175	Stabilizing	0.987	D	0.665	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.