TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5394	16405;16406;16407	chr2:178732996;178732995;178732994	chr2:179597723;179597722;179597721
N2AB	5077	15454;15455;15456	chr2:178732996;178732995;178732994	chr2:179597723;179597722;179597721
N2A	4150	12673;12674;12675	chr2:178732996;178732995;178732994	chr2:179597723;179597722;179597721
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: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Ig-37
• Domain position: 38
• Structural Position: 52
• Q(SASA): 0.4103
• 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
G/S	None	None	0.028	N	0.243	0.197	0.183819452728	gnomAD-4.0.0	3.18372E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.71713E-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	0.2309	likely_benign	0.2389	benign	-0.35	Destabilizing	0.309	N	0.386	neutral	N	0.476164497	None	None	N
G/C	0.3548	ambiguous	0.3451	ambiguous	-0.89	Destabilizing	0.994	D	0.573	neutral	D	0.522768261	None	None	N
G/D	0.1465	likely_benign	0.1463	benign	-0.514	Destabilizing	0.003	N	0.255	neutral	N	0.499698253	None	None	N
G/E	0.1723	likely_benign	0.1702	benign	-0.653	Destabilizing	0.037	N	0.301	neutral	None	None	None	None	N
G/F	0.7067	likely_pathogenic	0.7079	pathogenic	-0.944	Destabilizing	0.953	D	0.531	neutral	None	None	None	None	N
G/H	0.3302	likely_benign	0.3334	benign	-0.545	Destabilizing	0.996	D	0.467	neutral	None	None	None	None	N
G/I	0.5717	likely_pathogenic	0.5728	pathogenic	-0.402	Destabilizing	0.953	D	0.529	neutral	None	None	None	None	N
G/K	0.3107	likely_benign	0.3018	benign	-0.888	Destabilizing	0.742	D	0.425	neutral	None	None	None	None	N
G/L	0.5899	likely_pathogenic	0.6	pathogenic	-0.402	Destabilizing	0.91	D	0.519	neutral	None	None	None	None	N
G/M	0.5837	likely_pathogenic	0.5937	pathogenic	-0.534	Destabilizing	0.996	D	0.538	neutral	None	None	None	None	N
G/N	0.1884	likely_benign	0.1939	benign	-0.569	Destabilizing	0.59	D	0.373	neutral	None	None	None	None	N
G/P	0.9547	likely_pathogenic	0.9597	pathogenic	-0.35	Destabilizing	0.953	D	0.467	neutral	None	None	None	None	N
G/Q	0.2133	likely_benign	0.2155	benign	-0.809	Destabilizing	0.91	D	0.464	neutral	None	None	None	None	N
G/R	0.2115	likely_benign	0.2039	benign	-0.447	Destabilizing	0.884	D	0.46	neutral	N	0.489571491	None	None	N
G/S	0.1092	likely_benign	0.1116	benign	-0.743	Destabilizing	0.028	N	0.243	neutral	N	0.508280451	None	None	N
G/T	0.2804	likely_benign	0.2903	benign	-0.804	Destabilizing	0.59	D	0.426	neutral	None	None	None	None	N
G/V	0.4602	ambiguous	0.4603	ambiguous	-0.35	Destabilizing	0.884	D	0.514	neutral	N	0.511411955	None	None	N
G/W	0.5085	ambiguous	0.5142	ambiguous	-1.127	Destabilizing	0.996	D	0.575	neutral	None	None	None	None	N
G/Y	0.5315	ambiguous	0.5298	ambiguous	-0.774	Destabilizing	0.984	D	0.531	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.