TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5544	16855;16856;16857	chr2:178732339;178732338;178732337	chr2:179597066;179597065;179597064
N2AB	5227	15904;15905;15906	chr2:178732339;178732338;178732337	chr2:179597066;179597065;179597064
N2A	4300	13123;13124;13125	chr2:178732339;178732338;178732337	chr2:179597066;179597065;179597064
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: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-39
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.509
• 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
T/K	rs751511581	-0.026	0.001	N	0.263	0.079	0.134241683229	gnomAD-2.1.1	4.18E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	9.17E-06	0
T/K	rs751511581	-0.026	0.001	N	0.263	0.079	0.134241683229	gnomAD-4.0.0	1.62648E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.92164E-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
T/A	0.0634	likely_benign	0.0647	benign	-0.954	Destabilizing	None	N	0.174	neutral	N	0.476082314	None	None	N
T/C	0.3125	likely_benign	0.3233	benign	-0.536	Destabilizing	0.001	N	0.216	neutral	None	None	None	None	N
T/D	0.3066	likely_benign	0.3415	ambiguous	0.225	Stabilizing	0.038	N	0.277	neutral	None	None	None	None	N
T/E	0.2179	likely_benign	0.239	benign	0.22	Stabilizing	0.072	N	0.278	neutral	None	None	None	None	N
T/F	0.143	likely_benign	0.1585	benign	-1.127	Destabilizing	0.214	N	0.425	neutral	None	None	None	None	N
T/G	0.1782	likely_benign	0.1937	benign	-1.187	Destabilizing	0.016	N	0.305	neutral	None	None	None	None	N
T/H	0.1623	likely_benign	0.1713	benign	-1.383	Destabilizing	0.356	N	0.374	neutral	None	None	None	None	N
T/I	0.092	likely_benign	0.0976	benign	-0.426	Destabilizing	0.012	N	0.275	neutral	N	0.485221872	None	None	N
T/K	0.1084	likely_benign	0.1163	benign	-0.49	Destabilizing	0.001	N	0.263	neutral	N	0.400123118	None	None	N
T/L	0.0698	likely_benign	0.0757	benign	-0.426	Destabilizing	None	N	0.267	neutral	None	None	None	None	N
T/M	0.0759	likely_benign	0.0821	benign	-0.147	Destabilizing	0.002	N	0.231	neutral	None	None	None	None	N
T/N	0.1041	likely_benign	0.1077	benign	-0.416	Destabilizing	None	N	0.16	neutral	None	None	None	None	N
T/P	0.3469	ambiguous	0.3912	ambiguous	-0.571	Destabilizing	0.106	N	0.396	neutral	N	0.488896895	None	None	N
T/Q	0.1459	likely_benign	0.1569	benign	-0.591	Destabilizing	0.214	N	0.407	neutral	None	None	None	None	N
T/R	0.086	likely_benign	0.0915	benign	-0.272	Destabilizing	0.029	N	0.355	neutral	N	0.39660281	None	None	N
T/S	0.0882	likely_benign	0.0899	benign	-0.8	Destabilizing	0.012	N	0.213	neutral	N	0.434022261	None	None	N
T/V	0.0791	likely_benign	0.0814	benign	-0.571	Destabilizing	0.001	N	0.184	neutral	None	None	None	None	N
T/W	0.451	ambiguous	0.4913	ambiguous	-0.994	Destabilizing	0.864	D	0.407	neutral	None	None	None	None	N
T/Y	0.1883	likely_benign	0.1977	benign	-0.762	Destabilizing	0.356	N	0.419	neutral	None	None	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.