TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8991	27196;27197;27198	chr2:178713163;178713162;178713161	chr2:179577890;179577889;179577888
N2AB	8674	26245;26246;26247	chr2:178713163;178713162;178713161	chr2:179577890;179577889;179577888
N2A	7747	23464;23465;23466	chr2:178713163;178713162;178713161	chr2:179577890;179577889;179577888
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: S
• RefSeq wild type transcript codon: TCA
• RefSeq wild type template codon: AGT
• Domain: Ig-75
• Domain position: 66
• Structural Position: 148
• Q(SASA): 0.4011
• 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
S/L	None	None	None	N	0.158	0.188	0.318540980066	gnomAD-4.0.0	2.73697E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.59796E-06	0	0
S/T	rs1196970507	0.126	None	N	0.1	0.106	0.0401082797425	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.87E-06	0
S/T	rs1196970507	0.126	None	N	0.1	0.106	0.0401082797425	gnomAD-4.0.0	1.59139E-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
S/A	0.0695	likely_benign	0.0692	benign	-0.253	Destabilizing	None	N	0.089	neutral	N	0.481472278	None	None	N
S/C	0.1415	likely_benign	0.1562	benign	-0.16	Destabilizing	0.356	N	0.367	neutral	None	None	None	None	N
S/D	0.1812	likely_benign	0.1932	benign	-0.023	Destabilizing	0.072	N	0.294	neutral	None	None	None	None	N
S/E	0.2596	likely_benign	0.2649	benign	-0.132	Destabilizing	0.072	N	0.22	neutral	None	None	None	None	N
S/F	0.1498	likely_benign	0.1517	benign	-0.902	Destabilizing	0.214	N	0.461	neutral	None	None	None	None	N
S/G	0.0763	likely_benign	0.0816	benign	-0.338	Destabilizing	0.016	N	0.233	neutral	None	None	None	None	N
S/H	0.2289	likely_benign	0.2399	benign	-0.776	Destabilizing	0.628	D	0.361	neutral	None	None	None	None	N
S/I	0.1361	likely_benign	0.1406	benign	-0.164	Destabilizing	None	N	0.216	neutral	None	None	None	None	N
S/K	0.3176	likely_benign	0.3357	benign	-0.423	Destabilizing	0.072	N	0.219	neutral	None	None	None	None	N
S/L	0.0928	likely_benign	0.0935	benign	-0.164	Destabilizing	None	N	0.158	neutral	N	0.508178876	None	None	N
S/M	0.1466	likely_benign	0.1467	benign	0.099	Stabilizing	0.214	N	0.386	neutral	None	None	None	None	N
S/N	0.0891	likely_benign	0.1033	benign	-0.08	Destabilizing	0.072	N	0.322	neutral	None	None	None	None	N
S/P	0.1986	likely_benign	0.188	benign	-0.167	Destabilizing	0.171	N	0.445	neutral	N	0.485409845	None	None	N
S/Q	0.3158	likely_benign	0.3322	benign	-0.374	Destabilizing	0.356	N	0.342	neutral	None	None	None	None	N
S/R	0.2827	likely_benign	0.3077	benign	-0.136	Destabilizing	0.214	N	0.425	neutral	None	None	None	None	N
S/T	0.0683	likely_benign	0.0718	benign	-0.201	Destabilizing	None	N	0.1	neutral	N	0.484781942	None	None	N
S/V	0.1451	likely_benign	0.1473	benign	-0.167	Destabilizing	None	N	0.137	neutral	None	None	None	None	N
S/W	0.2083	likely_benign	0.2105	benign	-0.935	Destabilizing	0.864	D	0.408	neutral	None	None	None	None	N
S/Y	0.1443	likely_benign	0.1437	benign	-0.648	Destabilizing	0.356	N	0.433	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.