TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5620	17083;17084;17085	chr2:178732111;178732110;178732109	chr2:179596838;179596837;179596836
N2AB	5303	16132;16133;16134	chr2:178732111;178732110;178732109	chr2:179596838;179596837;179596836
N2A	4376	13351;13352;13353	chr2:178732111;178732110;178732109	chr2:179596838;179596837;179596836
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: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-39
• Domain position: 78
• Structural Position: 161
• Q(SASA): 0.1889
• 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
N/S	rs747660270	-0.776	0.287	N	0.248	0.339	0.233150807113	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.91E-06	0
N/S	rs747660270	-0.776	0.287	N	0.248	0.339	0.233150807113	gnomAD-4.0.0	1.5932E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86272E-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
N/A	0.9802	likely_pathogenic	0.9716	pathogenic	-0.264	Destabilizing	0.871	D	0.567	neutral	None	None	None	None	N
N/C	0.9511	likely_pathogenic	0.9329	pathogenic	0.013	Stabilizing	1.0	D	0.7	prob.neutral	None	None	None	None	N
N/D	0.9235	likely_pathogenic	0.9057	pathogenic	-1.622	Destabilizing	0.961	D	0.579	neutral	D	0.555550638	None	None	N
N/E	0.9904	likely_pathogenic	0.9873	pathogenic	-1.574	Destabilizing	0.97	D	0.575	neutral	None	None	None	None	N
N/F	0.9983	likely_pathogenic	0.9973	pathogenic	-0.559	Destabilizing	0.999	D	0.698	prob.neutral	None	None	None	None	N
N/G	0.9368	likely_pathogenic	0.9206	pathogenic	-0.505	Destabilizing	0.931	D	0.569	neutral	None	None	None	None	N
N/H	0.9492	likely_pathogenic	0.926	pathogenic	-0.562	Destabilizing	0.998	D	0.596	neutral	D	0.522584585	None	None	N
N/I	0.9792	likely_pathogenic	0.9687	pathogenic	0.304	Stabilizing	0.994	D	0.699	prob.neutral	D	0.557071575	None	None	N
N/K	0.9934	likely_pathogenic	0.989	pathogenic	0.025	Stabilizing	0.961	D	0.575	neutral	D	0.556311107	None	None	N
N/L	0.9662	likely_pathogenic	0.9565	pathogenic	0.304	Stabilizing	0.985	D	0.695	prob.neutral	None	None	None	None	N
N/M	0.9729	likely_pathogenic	0.9647	pathogenic	0.821	Stabilizing	1.0	D	0.673	neutral	None	None	None	None	N
N/P	0.9958	likely_pathogenic	0.9939	pathogenic	0.142	Stabilizing	0.996	D	0.667	neutral	None	None	None	None	N
N/Q	0.9926	likely_pathogenic	0.9889	pathogenic	-0.96	Destabilizing	0.996	D	0.628	neutral	None	None	None	None	N
N/R	0.9938	likely_pathogenic	0.9888	pathogenic	0.185	Stabilizing	0.996	D	0.641	neutral	None	None	None	None	N
N/S	0.5834	likely_pathogenic	0.5345	ambiguous	-0.493	Destabilizing	0.287	N	0.248	neutral	N	0.48409467	None	None	N
N/T	0.8423	likely_pathogenic	0.8065	pathogenic	-0.31	Destabilizing	0.925	D	0.557	neutral	D	0.526178983	None	None	N
N/V	0.9738	likely_pathogenic	0.964	pathogenic	0.142	Stabilizing	0.996	D	0.696	prob.neutral	None	None	None	None	N
N/W	0.999	likely_pathogenic	0.9982	pathogenic	-0.509	Destabilizing	1.0	D	0.679	prob.neutral	None	None	None	None	N
N/Y	0.9772	likely_pathogenic	0.9624	pathogenic	-0.113	Destabilizing	0.998	D	0.658	neutral	D	0.556818086	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.