TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7552	22879;22880;22881	chr2:178722009;178722008;178722007	chr2:179586736;179586735;179586734
N2AB	7235	21928;21929;21930	chr2:178722009;178722008;178722007	chr2:179586736;179586735;179586734
N2A	6308	19147;19148;19149	chr2:178722009;178722008;178722007	chr2:179586736;179586735;179586734
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: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-60
• Domain position: 38
• Structural Position: 52
• Q(SASA): 0.8076
• 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	rs1171381654	0.053	None	N	0.122	0.106	0.168933306366	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	3.27E-05	None	0	0	0
N/D	rs1171381654	0.053	None	N	0.122	0.106	0.168933306366	gnomAD-4.0.0	1.59195E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43357E-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	0.1988	likely_benign	0.2228	benign	-0.181	Destabilizing	0.01	N	0.275	neutral	None	None	None	None	N
N/C	0.3548	ambiguous	0.3848	ambiguous	0.381	Stabilizing	0.976	D	0.386	neutral	None	None	None	None	N
N/D	0.1073	likely_benign	0.1143	benign	0.05	Stabilizing	None	N	0.122	neutral	N	0.440180229	None	None	N
N/E	0.2708	likely_benign	0.3035	benign	-0.014	Destabilizing	0.006	N	0.136	neutral	None	None	None	None	N
N/F	0.497	ambiguous	0.546	ambiguous	-0.729	Destabilizing	0.927	D	0.394	neutral	None	None	None	None	N
N/G	0.1363	likely_benign	0.1554	benign	-0.29	Destabilizing	0.002	N	0.113	neutral	None	None	None	None	N
N/H	0.0911	likely_benign	0.0982	benign	-0.377	Destabilizing	0.002	N	0.136	neutral	N	0.479144049	None	None	N
N/I	0.3179	likely_benign	0.3593	ambiguous	0.012	Stabilizing	0.916	D	0.403	neutral	N	0.480014567	None	None	N
N/K	0.1933	likely_benign	0.2149	benign	0.198	Stabilizing	0.575	D	0.217	neutral	N	0.471561928	None	None	N
N/L	0.2709	likely_benign	0.2983	benign	0.012	Stabilizing	0.576	D	0.444	neutral	None	None	None	None	N
N/M	0.3192	likely_benign	0.3573	ambiguous	0.319	Stabilizing	0.982	D	0.341	neutral	None	None	None	None	N
N/P	0.7963	likely_pathogenic	0.8131	pathogenic	-0.029	Destabilizing	0.757	D	0.399	neutral	None	None	None	None	N
N/Q	0.1954	likely_benign	0.2193	benign	-0.168	Destabilizing	0.401	N	0.291	neutral	None	None	None	None	N
N/R	0.2248	likely_benign	0.2541	benign	0.277	Stabilizing	0.642	D	0.288	neutral	None	None	None	None	N
N/S	0.0715	likely_benign	0.0771	benign	0.092	Stabilizing	0.043	N	0.291	neutral	N	0.481893565	None	None	N
N/T	0.1458	likely_benign	0.163	benign	0.144	Stabilizing	0.254	N	0.228	neutral	N	0.481144204	None	None	N
N/V	0.3165	likely_benign	0.3602	ambiguous	-0.029	Destabilizing	0.102	N	0.466	neutral	None	None	None	None	N
N/W	0.6952	likely_pathogenic	0.737	pathogenic	-0.804	Destabilizing	0.993	D	0.425	neutral	None	None	None	None	N
N/Y	0.1881	likely_benign	0.209	benign	-0.5	Destabilizing	0.826	D	0.388	neutral	N	0.511640469	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.