TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31560	94903;94904;94905	chr2:178546750;178546749;178546748	chr2:179411477;179411476;179411475
N2AB	29919	89980;89981;89982	chr2:178546750;178546749;178546748	chr2:179411477;179411476;179411475
N2A	28992	87199;87200;87201	chr2:178546750;178546749;178546748	chr2:179411477;179411476;179411475
N2B	22495	67708;67709;67710	chr2:178546750;178546749;178546748	chr2:179411477;179411476;179411475
Novex-1	22620	68083;68084;68085	chr2:178546750;178546749;178546748	chr2:179411477;179411476;179411475
Novex-2	22687	68284;68285;68286	chr2:178546750;178546749;178546748	chr2:179411477;179411476;179411475
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Fn3-118
• Domain position: 55
• Structural Position: 69
• Q(SASA): 0.1362
• 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	None	None	0.999	N	0.608	0.418	0.202086224978	gnomAD-4.0.0	1.59128E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85842E-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	0.9633	likely_pathogenic	0.9623	pathogenic	-1.074	Destabilizing	1.0	D	0.709	prob.delet.	None	None	None	None	N
N/C	0.8662	likely_pathogenic	0.8829	pathogenic	-0.101	Destabilizing	1.0	D	0.767	deleterious	None	None	None	None	N
N/D	0.9652	likely_pathogenic	0.9428	pathogenic	-0.351	Destabilizing	0.999	D	0.645	neutral	N	0.481852944	None	None	N
N/E	0.9979	likely_pathogenic	0.997	pathogenic	-0.163	Destabilizing	0.999	D	0.715	prob.delet.	None	None	None	None	N
N/F	0.9989	likely_pathogenic	0.9984	pathogenic	-0.703	Destabilizing	1.0	D	0.81	deleterious	None	None	None	None	N
N/G	0.9469	likely_pathogenic	0.9368	pathogenic	-1.463	Destabilizing	0.999	D	0.6	neutral	None	None	None	None	N
N/H	0.917	likely_pathogenic	0.8773	pathogenic	-0.807	Destabilizing	1.0	D	0.753	deleterious	N	0.486043226	None	None	N
N/I	0.9872	likely_pathogenic	0.9825	pathogenic	-0.044	Destabilizing	1.0	D	0.795	deleterious	N	0.495335616	None	None	N
N/K	0.9991	likely_pathogenic	0.9985	pathogenic	0.14	Stabilizing	1.0	D	0.74	deleterious	N	0.489927112	None	None	N
N/L	0.9823	likely_pathogenic	0.9772	pathogenic	-0.044	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
N/M	0.991	likely_pathogenic	0.9887	pathogenic	0.208	Stabilizing	1.0	D	0.765	deleterious	None	None	None	None	N
N/P	0.9891	likely_pathogenic	0.9851	pathogenic	-0.36	Destabilizing	1.0	D	0.77	deleterious	None	None	None	None	N
N/Q	0.994	likely_pathogenic	0.9912	pathogenic	-0.409	Destabilizing	1.0	D	0.763	deleterious	None	None	None	None	N
N/R	0.9974	likely_pathogenic	0.9961	pathogenic	0.025	Stabilizing	1.0	D	0.755	deleterious	None	None	None	None	N
N/S	0.2295	likely_benign	0.2195	benign	-0.856	Destabilizing	0.999	D	0.608	neutral	N	0.493353858	None	None	N
N/T	0.7488	likely_pathogenic	0.728	pathogenic	-0.441	Destabilizing	0.999	D	0.699	prob.neutral	N	0.476066046	None	None	N
N/V	0.9788	likely_pathogenic	0.9756	pathogenic	-0.36	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	N
N/W	0.9996	likely_pathogenic	0.9994	pathogenic	-0.386	Destabilizing	1.0	D	0.743	deleterious	None	None	None	None	N
N/Y	0.989	likely_pathogenic	0.9835	pathogenic	-0.139	Destabilizing	1.0	D	0.783	deleterious	N	0.49471696	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.