TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32530	97813;97814;97815	chr2:178541489;178541488;178541487	chr2:179406216;179406215;179406214
N2AB	30889	92890;92891;92892	chr2:178541489;178541488;178541487	chr2:179406216;179406215;179406214
N2A	29962	90109;90110;90111	chr2:178541489;178541488;178541487	chr2:179406216;179406215;179406214
N2B	23465	70618;70619;70620	chr2:178541489;178541488;178541487	chr2:179406216;179406215;179406214
Novex-1	23590	70993;70994;70995	chr2:178541489;178541488;178541487	chr2:179406216;179406215;179406214
Novex-2	23657	71194;71195;71196	chr2:178541489;178541488;178541487	chr2:179406216;179406215;179406214
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Fn3-125
• Domain position: 32
• Structural Position: 34
• Q(SASA): 0.7365
• Predicted PPI site: I

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
Q/P	None	None	0.002	N	0.125	0.217	0.168933306366	gnomAD-4.0.0	6.84375E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.9962E-07	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
Q/A	0.119	likely_benign	0.1137	benign	-0.145	Destabilizing	0.176	N	0.335	neutral	None	None	None	None	I
Q/C	0.4917	ambiguous	0.4879	ambiguous	0.313	Stabilizing	0.995	D	0.453	neutral	None	None	None	None	I
Q/D	0.2693	likely_benign	0.2507	benign	-0.057	Destabilizing	0.495	N	0.321	neutral	None	None	None	None	I
Q/E	0.0759	likely_benign	0.0748	benign	-0.108	Destabilizing	0.425	N	0.313	neutral	N	0.366346979	None	None	I
Q/F	0.5199	ambiguous	0.5181	ambiguous	-0.477	Destabilizing	0.981	D	0.473	neutral	None	None	None	None	I
Q/G	0.2313	likely_benign	0.2224	benign	-0.296	Destabilizing	0.495	N	0.489	neutral	None	None	None	None	I
Q/H	0.1559	likely_benign	0.1465	benign	-0.295	Destabilizing	0.975	D	0.391	neutral	N	0.446330702	None	None	I
Q/I	0.2665	likely_benign	0.2566	benign	0.159	Stabilizing	0.704	D	0.488	neutral	None	None	None	None	I
Q/K	0.0875	likely_benign	0.0862	benign	0.168	Stabilizing	0.425	N	0.358	neutral	N	0.394843089	None	None	I
Q/L	0.1088	likely_benign	0.104	benign	0.159	Stabilizing	0.425	N	0.485	neutral	N	0.443079753	None	None	I
Q/M	0.261	likely_benign	0.2549	benign	0.484	Stabilizing	0.981	D	0.389	neutral	None	None	None	None	I
Q/N	0.2048	likely_benign	0.1937	benign	-0.043	Destabilizing	0.704	D	0.307	neutral	None	None	None	None	I
Q/P	0.0776	likely_benign	0.074	benign	0.084	Stabilizing	0.002	N	0.125	neutral	N	0.292561296	None	None	I
Q/R	0.0954	likely_benign	0.0943	benign	0.309	Stabilizing	0.784	D	0.347	neutral	N	0.376566759	None	None	I
Q/S	0.1426	likely_benign	0.1412	benign	-0.041	Destabilizing	0.037	N	0.089	neutral	None	None	None	None	I
Q/T	0.1364	likely_benign	0.1295	benign	0.049	Stabilizing	0.013	N	0.123	neutral	None	None	None	None	I
Q/V	0.1608	likely_benign	0.1544	benign	0.084	Stabilizing	0.495	N	0.495	neutral	None	None	None	None	I
Q/W	0.4564	ambiguous	0.4729	ambiguous	-0.494	Destabilizing	0.995	D	0.463	neutral	None	None	None	None	I
Q/Y	0.3447	ambiguous	0.3479	ambiguous	-0.214	Destabilizing	0.981	D	0.45	neutral	None	None	None	None	I

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.