TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17926	54001;54002;54003	chr2:178605519;178605518;178605517	chr2:179470246;179470245;179470244
N2AB	16285	49078;49079;49080	chr2:178605519;178605518;178605517	chr2:179470246;179470245;179470244
N2A	15358	46297;46298;46299	chr2:178605519;178605518;178605517	chr2:179470246;179470245;179470244
N2B	8861	26806;26807;26808	chr2:178605519;178605518;178605517	chr2:179470246;179470245;179470244
Novex-1	8986	27181;27182;27183	chr2:178605519;178605518;178605517	chr2:179470246;179470245;179470244
Novex-2	9053	27382;27383;27384	chr2:178605519;178605518;178605517	chr2:179470246;179470245;179470244
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: Fn3-18
• Domain position: 65
• Structural Position: 96
• Q(SASA): 0.8158
• 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/D	None	None	None	N	0.177	0.073	0.107399877778	gnomAD-4.0.0	1.59431E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43476E-05	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	0.1856	likely_benign	0.2093	benign	-0.161	Destabilizing	0.016	N	0.32	neutral	None	None	None	None	N
N/C	0.3174	likely_benign	0.3433	ambiguous	0.299	Stabilizing	0.864	D	0.397	neutral	None	None	None	None	N
N/D	0.0805	likely_benign	0.0925	benign	0.152	Stabilizing	None	N	0.177	neutral	N	0.473303873	None	None	N
N/E	0.2232	likely_benign	0.247	benign	0.1	Stabilizing	0.016	N	0.321	neutral	None	None	None	None	N
N/F	0.4335	ambiguous	0.5005	ambiguous	-0.667	Destabilizing	0.628	D	0.432	neutral	None	None	None	None	N
N/G	0.1592	likely_benign	0.1667	benign	-0.29	Destabilizing	None	N	0.152	neutral	None	None	None	None	N
N/H	0.1183	likely_benign	0.1222	benign	-0.312	Destabilizing	0.295	N	0.392	neutral	N	0.479032241	None	None	N
N/I	0.3048	likely_benign	0.3582	ambiguous	0.082	Stabilizing	0.295	N	0.45	neutral	N	0.491149015	None	None	N
N/K	0.205	likely_benign	0.1942	benign	0.163	Stabilizing	None	N	0.154	neutral	N	0.488660114	None	None	N
N/L	0.2883	likely_benign	0.3193	benign	0.082	Stabilizing	0.072	N	0.461	neutral	None	None	None	None	N
N/M	0.3087	likely_benign	0.3325	benign	0.248	Stabilizing	0.864	D	0.377	neutral	None	None	None	None	N
N/P	0.6814	likely_pathogenic	0.7161	pathogenic	0.026	Stabilizing	0.356	N	0.441	neutral	None	None	None	None	N
N/Q	0.227	likely_benign	0.2324	benign	-0.214	Destabilizing	0.072	N	0.383	neutral	None	None	None	None	N
N/R	0.2968	likely_benign	0.3013	benign	0.227	Stabilizing	None	N	0.214	neutral	None	None	None	None	N
N/S	0.1057	likely_benign	0.1156	benign	0.01	Stabilizing	0.012	N	0.369	neutral	N	0.50580308	None	None	N
N/T	0.144	likely_benign	0.1586	benign	0.084	Stabilizing	0.055	N	0.319	neutral	N	0.479285731	None	None	N
N/V	0.2726	likely_benign	0.3193	benign	0.026	Stabilizing	0.136	N	0.477	neutral	None	None	None	None	N
N/W	0.6828	likely_pathogenic	0.7339	pathogenic	-0.741	Destabilizing	0.864	D	0.473	neutral	None	None	None	None	N
N/Y	0.1675	likely_benign	0.193	benign	-0.434	Destabilizing	0.56	D	0.408	neutral	N	0.513772721	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.