TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5731	17416;17417;17418	chr2:178731575;178731574;178731573	chr2:179596302;179596301;179596300
N2AB	5414	16465;16466;16467	chr2:178731575;178731574;178731573	chr2:179596302;179596301;179596300
N2A	4487	13684;13685;13686	chr2:178731575;178731574;178731573	chr2:179596302;179596301;179596300
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: TCC
• RefSeq wild type template codon: AGG
• Domain: Ig-41
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.2897
• 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/P	rs1578170411	None	None	N	0.173	0.179	0.0986583533028	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
S/A	0.0689	likely_benign	0.0685	benign	-0.497	Destabilizing	None	N	0.124	neutral	D	0.531942036	None	None	N
S/C	0.0865	likely_benign	0.0868	benign	-0.354	Destabilizing	0.612	D	0.285	neutral	N	0.511269457	None	None	N
S/D	0.346	ambiguous	0.3598	ambiguous	0.548	Stabilizing	0.072	N	0.202	neutral	None	None	None	None	N
S/E	0.3861	ambiguous	0.3804	ambiguous	0.549	Stabilizing	0.016	N	0.205	neutral	None	None	None	None	N
S/F	0.1223	likely_benign	0.1232	benign	-0.832	Destabilizing	0.171	N	0.341	neutral	N	0.492911713	None	None	N
S/G	0.0898	likely_benign	0.0932	benign	-0.709	Destabilizing	0.016	N	0.223	neutral	None	None	None	None	N
S/H	0.2221	likely_benign	0.2116	benign	-0.941	Destabilizing	0.356	N	0.297	neutral	None	None	None	None	N
S/I	0.0845	likely_benign	0.0837	benign	-0.044	Destabilizing	0.013	N	0.3	neutral	None	None	None	None	N
S/K	0.4353	ambiguous	0.4073	ambiguous	-0.181	Destabilizing	0.001	N	0.131	neutral	None	None	None	None	N
S/L	0.0757	likely_benign	0.0734	benign	-0.044	Destabilizing	0.016	N	0.27	neutral	None	None	None	None	N
S/M	0.1307	likely_benign	0.1187	benign	-0.147	Destabilizing	0.214	N	0.297	neutral	None	None	None	None	N
S/N	0.1032	likely_benign	0.1039	benign	-0.179	Destabilizing	0.072	N	0.218	neutral	None	None	None	None	N
S/P	0.786	likely_pathogenic	0.7869	pathogenic	-0.162	Destabilizing	None	N	0.173	neutral	N	0.499406173	None	None	N
S/Q	0.3043	likely_benign	0.2781	benign	-0.22	Destabilizing	0.001	N	0.123	neutral	None	None	None	None	N
S/R	0.3377	likely_benign	0.3118	benign	-0.124	Destabilizing	0.038	N	0.297	neutral	None	None	None	None	N
S/T	0.0621	likely_benign	0.0594	benign	-0.252	Destabilizing	None	N	0.099	neutral	N	0.477704907	None	None	N
S/V	0.0862	likely_benign	0.081	benign	-0.162	Destabilizing	None	N	0.272	neutral	None	None	None	None	N
S/W	0.2623	likely_benign	0.2857	benign	-0.865	Destabilizing	0.864	D	0.387	neutral	None	None	None	None	N
S/Y	0.121	likely_benign	0.1273	benign	-0.531	Destabilizing	0.295	N	0.339	neutral	N	0.484010943	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.