TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8141	24646;24647;24648	chr2:178718779;178718778;178718777	chr2:179583506;179583505;179583504
N2AB	7824	23695;23696;23697	chr2:178718779;178718778;178718777	chr2:179583506;179583505;179583504
N2A	6897	20914;20915;20916	chr2:178718779;178718778;178718777	chr2:179583506;179583505;179583504
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: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-66
• Domain position: 64
• Structural Position: 145
• Q(SASA): 0.4294
• 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/R	rs2154299738	None	0.001	N	0.197	0.132	0.0551355673512	gnomAD-4.0.0	2.40064E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.625E-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
Q/A	0.1145	likely_benign	0.1216	benign	-0.495	Destabilizing	None	N	0.227	neutral	None	None	None	None	I
Q/C	0.4599	ambiguous	0.4218	ambiguous	0.056	Stabilizing	0.132	N	0.373	neutral	None	None	None	None	I
Q/D	0.1487	likely_benign	0.1488	benign	-0.406	Destabilizing	None	N	0.126	neutral	None	None	None	None	I
Q/E	0.0574	likely_benign	0.0575	benign	-0.339	Destabilizing	None	N	0.133	neutral	N	0.434471418	None	None	I
Q/F	0.4189	ambiguous	0.4323	ambiguous	-0.271	Destabilizing	0.041	N	0.459	neutral	None	None	None	None	I
Q/G	0.1113	likely_benign	0.1203	benign	-0.824	Destabilizing	None	N	0.177	neutral	None	None	None	None	I
Q/H	0.1229	likely_benign	0.1266	benign	-0.747	Destabilizing	0.032	N	0.233	neutral	N	0.511492193	None	None	I
Q/I	0.2289	likely_benign	0.2513	benign	0.329	Stabilizing	0.009	N	0.445	neutral	None	None	None	None	I
Q/K	0.0614	likely_benign	0.0623	benign	-0.325	Destabilizing	None	N	0.163	neutral	N	0.484110804	None	None	I
Q/L	0.0894	likely_benign	0.0946	benign	0.329	Stabilizing	0.001	N	0.336	neutral	N	0.508086529	None	None	I
Q/M	0.2346	likely_benign	0.2502	benign	0.713	Stabilizing	0.316	N	0.217	neutral	None	None	None	None	I
Q/N	0.1357	likely_benign	0.1405	benign	-0.828	Destabilizing	None	N	0.162	neutral	None	None	None	None	I
Q/P	0.1344	likely_benign	0.1345	benign	0.086	Stabilizing	0.013	N	0.339	neutral	N	0.503142383	None	None	I
Q/R	0.0733	likely_benign	0.0751	benign	-0.265	Destabilizing	0.001	N	0.197	neutral	N	0.47139501	None	None	I
Q/S	0.1093	likely_benign	0.1188	benign	-0.868	Destabilizing	0.001	N	0.23	neutral	None	None	None	None	I
Q/T	0.1128	likely_benign	0.1199	benign	-0.614	Destabilizing	0.004	N	0.279	neutral	None	None	None	None	I
Q/V	0.1562	likely_benign	0.1646	benign	0.086	Stabilizing	0.002	N	0.325	neutral	None	None	None	None	I
Q/W	0.2949	likely_benign	0.3149	benign	-0.181	Destabilizing	0.316	N	0.345	neutral	None	None	None	None	I
Q/Y	0.2631	likely_benign	0.284	benign	0.041	Stabilizing	0.116	N	0.359	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.