TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30776	92551;92552;92553	chr2:178549300;178549299;178549298	chr2:179414027;179414026;179414025
N2AB	29135	87628;87629;87630	chr2:178549300;178549299;178549298	chr2:179414027;179414026;179414025
N2A	28208	84847;84848;84849	chr2:178549300;178549299;178549298	chr2:179414027;179414026;179414025
N2B	21711	65356;65357;65358	chr2:178549300;178549299;178549298	chr2:179414027;179414026;179414025
Novex-1	21836	65731;65732;65733	chr2:178549300;178549299;178549298	chr2:179414027;179414026;179414025
Novex-2	21903	65932;65933;65934	chr2:178549300;178549299;178549298	chr2:179414027;179414026;179414025
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Fn3-112
• Domain position: 58
• Structural Position: 83
• Q(SASA): 0.5058
• 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/A	None	None	None	N	0.121	0.06	0.0954503805726	gnomAD-4.0.0	1.59101E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85776E-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	0.0624	likely_benign	0.063	benign	-0.407	Destabilizing	None	N	0.121	neutral	N	0.462105444	None	None	N
S/C	0.1001	likely_benign	0.0969	benign	-0.383	Destabilizing	None	N	0.244	neutral	N	0.496599383	None	None	N
S/D	0.4078	ambiguous	0.3877	ambiguous	0.456	Stabilizing	0.072	N	0.265	neutral	None	None	None	None	N
S/E	0.4634	ambiguous	0.4401	ambiguous	0.416	Stabilizing	0.072	N	0.263	neutral	None	None	None	None	N
S/F	0.1548	likely_benign	0.1546	benign	-0.772	Destabilizing	0.171	N	0.567	neutral	N	0.471658273	None	None	N
S/G	0.0758	likely_benign	0.0748	benign	-0.59	Destabilizing	0.016	N	0.233	neutral	None	None	None	None	N
S/H	0.2767	likely_benign	0.2502	benign	-0.964	Destabilizing	0.628	D	0.461	neutral	None	None	None	None	N
S/I	0.1314	likely_benign	0.1167	benign	-0.045	Destabilizing	None	N	0.336	neutral	None	None	None	None	N
S/K	0.4797	ambiguous	0.4397	ambiguous	-0.406	Destabilizing	0.072	N	0.264	neutral	None	None	None	None	N
S/L	0.0738	likely_benign	0.072	benign	-0.045	Destabilizing	0.002	N	0.279	neutral	None	None	None	None	N
S/M	0.1356	likely_benign	0.1389	benign	-0.071	Destabilizing	0.214	N	0.473	neutral	None	None	None	None	N
S/N	0.1141	likely_benign	0.1057	benign	-0.26	Destabilizing	0.072	N	0.302	neutral	None	None	None	None	N
S/P	0.1049	likely_benign	0.0996	benign	-0.133	Destabilizing	0.106	N	0.511	neutral	N	0.447674709	None	None	N
S/Q	0.3719	ambiguous	0.3435	ambiguous	-0.381	Destabilizing	0.356	N	0.424	neutral	None	None	None	None	N
S/R	0.4307	ambiguous	0.3818	ambiguous	-0.297	Destabilizing	0.072	N	0.504	neutral	None	None	None	None	N
S/T	0.0627	likely_benign	0.0648	benign	-0.342	Destabilizing	None	N	0.107	neutral	N	0.414215497	None	None	N
S/V	0.127	likely_benign	0.1218	benign	-0.133	Destabilizing	0.002	N	0.28	neutral	None	None	None	None	N
S/W	0.2895	likely_benign	0.262	benign	-0.788	Destabilizing	0.864	D	0.506	neutral	None	None	None	None	N
S/Y	0.1634	likely_benign	0.1577	benign	-0.489	Destabilizing	0.295	N	0.527	neutral	N	0.514246418	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.