TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7240	21943;21944;21945	chr2:178723289;178723288;178723287	chr2:179588016;179588015;179588014
N2AB	6923	20992;20993;20994	chr2:178723289;178723288;178723287	chr2:179588016;179588015;179588014
N2A	5996	18211;18212;18213	chr2:178723289;178723288;178723287	chr2:179588016;179588015;179588014
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: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Ig-57
• Domain position: 11
• Structural Position: 14
• Q(SASA): 0.6398
• 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
S/F	None	None	0.096	D	0.399	0.211	0.420939154896	gnomAD-4.0.0	1.59228E-06	None	None	None	None	N	None	0	2.28781E-05	None	0	0	None	0	0	0	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
S/A	0.0767	likely_benign	0.08	benign	-0.199	Destabilizing	None	N	0.086	neutral	N	0.485261483	None	None	N
S/C	0.0917	likely_benign	0.1048	benign	-0.263	Destabilizing	0.002	N	0.207	neutral	D	0.523524362	None	None	N
S/D	0.3394	likely_benign	0.373	ambiguous	0.063	Stabilizing	0.124	N	0.199	neutral	None	None	None	None	N
S/E	0.439	ambiguous	0.4468	ambiguous	-0.035	Destabilizing	0.22	N	0.193	neutral	None	None	None	None	N
S/F	0.1256	likely_benign	0.1414	benign	-0.859	Destabilizing	0.096	N	0.399	neutral	D	0.523017383	None	None	N
S/G	0.1225	likely_benign	0.1335	benign	-0.289	Destabilizing	0.055	N	0.253	neutral	None	None	None	None	N
S/H	0.2295	likely_benign	0.2358	benign	-0.73	Destabilizing	0.497	N	0.323	neutral	None	None	None	None	N
S/I	0.1254	likely_benign	0.1282	benign	-0.095	Destabilizing	0.22	N	0.389	neutral	None	None	None	None	N
S/K	0.5382	ambiguous	0.5069	ambiguous	-0.406	Destabilizing	0.22	N	0.191	neutral	None	None	None	None	N
S/L	0.0897	likely_benign	0.0924	benign	-0.095	Destabilizing	0.055	N	0.288	neutral	None	None	None	None	N
S/M	0.1811	likely_benign	0.1899	benign	0.001	Stabilizing	0.667	D	0.327	neutral	None	None	None	None	N
S/N	0.1278	likely_benign	0.1428	benign	-0.132	Destabilizing	0.004	N	0.211	neutral	None	None	None	None	N
S/P	0.3053	likely_benign	0.3567	ambiguous	-0.102	Destabilizing	0.602	D	0.389	neutral	N	0.502279782	None	None	N
S/Q	0.3899	ambiguous	0.3898	ambiguous	-0.366	Destabilizing	0.667	D	0.291	neutral	None	None	None	None	N
S/R	0.4256	ambiguous	0.3988	ambiguous	-0.173	Destabilizing	0.22	N	0.405	neutral	None	None	None	None	N
S/T	0.0758	likely_benign	0.0771	benign	-0.213	Destabilizing	0.003	N	0.12	neutral	N	0.468141274	None	None	N
S/V	0.1373	likely_benign	0.1439	benign	-0.102	Destabilizing	0.124	N	0.328	neutral	None	None	None	None	N
S/W	0.1936	likely_benign	0.1999	benign	-0.921	Destabilizing	0.002	N	0.233	neutral	None	None	None	None	N
S/Y	0.1166	likely_benign	0.1268	benign	-0.609	Destabilizing	0.001	N	0.194	neutral	N	0.494873496	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.