TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32768	98527;98528;98529	chr2:178539763;178539762;178539761	chr2:179404490;179404489;179404488
N2AB	31127	93604;93605;93606	chr2:178539763;178539762;178539761	chr2:179404490;179404489;179404488
N2A	30200	90823;90824;90825	chr2:178539763;178539762;178539761	chr2:179404490;179404489;179404488
N2B	23703	71332;71333;71334	chr2:178539763;178539762;178539761	chr2:179404490;179404489;179404488
Novex-1	23828	71707;71708;71709	chr2:178539763;178539762;178539761	chr2:179404490;179404489;179404488
Novex-2	23895	71908;71909;71910	chr2:178539763;178539762;178539761	chr2:179404490;179404489;179404488
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGT
• RefSeq wild type template codon: CCA
• Domain: Ig-155
• Domain position: 61
• Structural Position: 148
• Q(SASA): 0.3945
• 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/V	None	None	0.055	N	0.425	0.094	0.223146558224	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	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
G/A	0.0687	likely_benign	0.0729	benign	-0.266	Destabilizing	0.005	N	0.254	neutral	N	0.393754506	None	None	N
G/C	0.1262	likely_benign	0.1327	benign	-0.811	Destabilizing	0.828	D	0.398	neutral	N	0.474679591	None	None	N
G/D	0.0778	likely_benign	0.0985	benign	-0.571	Destabilizing	None	N	0.105	neutral	N	0.366933264	None	None	N
G/E	0.0751	likely_benign	0.079	benign	-0.741	Destabilizing	None	N	0.102	neutral	None	None	None	None	N
G/F	0.2963	likely_benign	0.3305	benign	-1.06	Destabilizing	0.628	D	0.425	neutral	None	None	None	None	N
G/H	0.1667	likely_benign	0.1798	benign	-0.477	Destabilizing	0.214	N	0.414	neutral	None	None	None	None	N
G/I	0.124	likely_benign	0.1321	benign	-0.436	Destabilizing	0.356	N	0.473	neutral	None	None	None	None	N
G/K	0.1524	likely_benign	0.1569	benign	-0.719	Destabilizing	0.016	N	0.281	neutral	None	None	None	None	N
G/L	0.1623	likely_benign	0.1746	benign	-0.436	Destabilizing	0.072	N	0.423	neutral	None	None	None	None	N
G/M	0.1889	likely_benign	0.2045	benign	-0.371	Destabilizing	0.628	D	0.401	neutral	None	None	None	None	N
G/N	0.1106	likely_benign	0.1323	benign	-0.355	Destabilizing	None	N	0.101	neutral	None	None	None	None	N
G/P	0.6393	likely_pathogenic	0.6455	pathogenic	-0.348	Destabilizing	0.136	N	0.405	neutral	None	None	None	None	N
G/Q	0.1211	likely_benign	0.1275	benign	-0.664	Destabilizing	0.038	N	0.359	neutral	None	None	None	None	N
G/R	0.1255	likely_benign	0.1304	benign	-0.249	Destabilizing	0.055	N	0.4	neutral	N	0.432966255	None	None	N
G/S	0.0666	likely_benign	0.0707	benign	-0.505	Destabilizing	0.005	N	0.243	neutral	N	0.35109702	None	None	N
G/T	0.078	likely_benign	0.0798	benign	-0.607	Destabilizing	0.016	N	0.313	neutral	None	None	None	None	N
G/V	0.0888	likely_benign	0.0952	benign	-0.348	Destabilizing	0.055	N	0.425	neutral	N	0.437065353	None	None	N
G/W	0.2152	likely_benign	0.2234	benign	-1.195	Destabilizing	0.864	D	0.404	neutral	None	None	None	None	N
G/Y	0.203	likely_benign	0.2307	benign	-0.845	Destabilizing	0.628	D	0.443	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.