TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18358	55297;55298;55299	chr2:178602330;178602329;178602328	chr2:179467057;179467056;179467055
N2AB	16717	50374;50375;50376	chr2:178602330;178602329;178602328	chr2:179467057;179467056;179467055
N2A	15790	47593;47594;47595	chr2:178602330;178602329;178602328	chr2:179467057;179467056;179467055
N2B	9293	28102;28103;28104	chr2:178602330;178602329;178602328	chr2:179467057;179467056;179467055
Novex-1	9418	28477;28478;28479	chr2:178602330;178602329;178602328	chr2:179467057;179467056;179467055
Novex-2	9485	28678;28679;28680	chr2:178602330;178602329;178602328	chr2:179467057;179467056;179467055
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: Fn3-21
• Domain position: 87
• Structural Position: 118
• Q(SASA): 0.0647
• 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	1.0	N	0.923	0.509	0.66541518217	gnomAD-4.0.0	1.59326E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86172E-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	0.3688	ambiguous	0.4638	ambiguous	-0.803	Destabilizing	0.997	D	0.713	prob.delet.	N	0.515766821	None	None	N
S/C	0.6158	likely_pathogenic	0.7053	pathogenic	-0.921	Destabilizing	1.0	D	0.876	deleterious	N	0.51678078	None	None	N
S/D	0.9642	likely_pathogenic	0.9667	pathogenic	-1.668	Destabilizing	0.999	D	0.786	deleterious	None	None	None	None	N
S/E	0.9829	likely_pathogenic	0.9842	pathogenic	-1.572	Destabilizing	0.999	D	0.749	deleterious	None	None	None	None	N
S/F	0.9906	likely_pathogenic	0.9909	pathogenic	-0.607	Destabilizing	1.0	D	0.923	deleterious	N	0.51678078	None	None	N
S/G	0.1149	likely_benign	0.1138	benign	-1.117	Destabilizing	0.999	D	0.745	deleterious	None	None	None	None	N
S/H	0.9843	likely_pathogenic	0.9828	pathogenic	-1.478	Destabilizing	1.0	D	0.877	deleterious	None	None	None	None	N
S/I	0.9799	likely_pathogenic	0.9823	pathogenic	-0.042	Destabilizing	1.0	D	0.91	deleterious	None	None	None	None	N
S/K	0.9967	likely_pathogenic	0.9965	pathogenic	-1.017	Destabilizing	0.999	D	0.77	deleterious	None	None	None	None	N
S/L	0.9323	likely_pathogenic	0.9443	pathogenic	-0.042	Destabilizing	1.0	D	0.859	deleterious	None	None	None	None	N
S/M	0.9433	likely_pathogenic	0.9503	pathogenic	-0.03	Destabilizing	1.0	D	0.874	deleterious	None	None	None	None	N
S/N	0.8908	likely_pathogenic	0.9022	pathogenic	-1.368	Destabilizing	0.999	D	0.739	prob.delet.	None	None	None	None	N
S/P	0.9936	likely_pathogenic	0.9931	pathogenic	-0.263	Destabilizing	1.0	D	0.851	deleterious	N	0.51652729	None	None	N
S/Q	0.9856	likely_pathogenic	0.9872	pathogenic	-1.366	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	N
S/R	0.994	likely_pathogenic	0.9946	pathogenic	-1.006	Destabilizing	1.0	D	0.859	deleterious	None	None	None	None	N
S/T	0.6554	likely_pathogenic	0.6913	pathogenic	-1.119	Destabilizing	0.999	D	0.731	prob.delet.	N	0.515766821	None	None	N
S/V	0.9665	likely_pathogenic	0.9752	pathogenic	-0.263	Destabilizing	1.0	D	0.883	deleterious	None	None	None	None	N
S/W	0.9877	likely_pathogenic	0.9849	pathogenic	-0.773	Destabilizing	1.0	D	0.928	deleterious	None	None	None	None	N
S/Y	0.9753	likely_pathogenic	0.9755	pathogenic	-0.436	Destabilizing	1.0	D	0.926	deleterious	N	0.51678078	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.