TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15630	47113;47114;47115	chr2:178618662;178618661;178618660	chr2:179483389;179483388;179483387
N2AB	13989	42190;42191;42192	chr2:178618662;178618661;178618660	chr2:179483389;179483388;179483387
N2A	13062	39409;39410;39411	chr2:178618662;178618661;178618660	chr2:179483389;179483388;179483387
N2B	6565	19918;19919;19920	chr2:178618662;178618661;178618660	chr2:179483389;179483388;179483387
Novex-1	6690	20293;20294;20295	chr2:178618662;178618661;178618660	chr2:179483389;179483388;179483387
Novex-2	6757	20494;20495;20496	chr2:178618662;178618661;178618660	chr2:179483389;179483388;179483387
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-108
• Domain position: 63
• Structural Position: 148
• Q(SASA): 0.3395
• 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
G/R	None	None	0.029	N	0.427	0.077	0.256283259241	gnomAD-4.0.0	1.59439E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.86356E-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
G/A	0.061	likely_benign	0.0767	benign	-0.176	Destabilizing	None	N	0.139	neutral	N	0.36261067	None	None	I
G/C	0.135	likely_benign	0.2023	benign	-0.849	Destabilizing	0.676	D	0.397	neutral	None	None	None	None	I
G/D	0.0724	likely_benign	0.0956	benign	-0.506	Destabilizing	None	N	0.171	neutral	None	None	None	None	I
G/E	0.0691	likely_benign	0.0958	benign	-0.657	Destabilizing	None	N	0.157	neutral	N	0.392827241	None	None	I
G/F	0.2984	likely_benign	0.4397	ambiguous	-0.88	Destabilizing	0.356	N	0.439	neutral	None	None	None	None	I
G/H	0.1809	likely_benign	0.2651	benign	-0.355	Destabilizing	0.356	N	0.397	neutral	None	None	None	None	I
G/I	0.1142	likely_benign	0.1562	benign	-0.326	Destabilizing	0.214	N	0.465	neutral	None	None	None	None	I
G/K	0.1651	likely_benign	0.2428	benign	-0.759	Destabilizing	None	N	0.223	neutral	None	None	None	None	I
G/L	0.1619	likely_benign	0.2562	benign	-0.326	Destabilizing	0.038	N	0.448	neutral	None	None	None	None	I
G/M	0.1791	likely_benign	0.2708	benign	-0.518	Destabilizing	0.628	D	0.402	neutral	None	None	None	None	I
G/N	0.0959	likely_benign	0.1263	benign	-0.409	Destabilizing	0.038	N	0.285	neutral	None	None	None	None	I
G/P	0.3509	ambiguous	0.524	ambiguous	-0.245	Destabilizing	0.136	N	0.45	neutral	None	None	None	None	I
G/Q	0.1277	likely_benign	0.184	benign	-0.656	Destabilizing	0.038	N	0.456	neutral	None	None	None	None	I
G/R	0.1573	likely_benign	0.2261	benign	-0.34	Destabilizing	0.029	N	0.427	neutral	N	0.415320593	None	None	I
G/S	0.0641	likely_benign	0.0738	benign	-0.556	Destabilizing	None	N	0.081	neutral	None	None	None	None	I
G/T	0.0623	likely_benign	0.0781	benign	-0.634	Destabilizing	0.016	N	0.377	neutral	None	None	None	None	I
G/V	0.0873	likely_benign	0.1153	benign	-0.245	Destabilizing	0.029	N	0.453	neutral	N	0.417163264	None	None	I
G/W	0.2307	likely_benign	0.3141	benign	-1.047	Destabilizing	0.864	D	0.405	neutral	None	None	None	None	I
G/Y	0.218	likely_benign	0.3178	benign	-0.698	Destabilizing	0.356	N	0.438	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.