TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28898	86917;86918;86919	chr2:178559440;178559439;178559438	chr2:179424167;179424166;179424165
N2AB	27257	81994;81995;81996	chr2:178559440;178559439;178559438	chr2:179424167;179424166;179424165
N2A	26330	79213;79214;79215	chr2:178559440;178559439;178559438	chr2:179424167;179424166;179424165
N2B	19833	59722;59723;59724	chr2:178559440;178559439;178559438	chr2:179424167;179424166;179424165
Novex-1	19958	60097;60098;60099	chr2:178559440;178559439;178559438	chr2:179424167;179424166;179424165
Novex-2	20025	60298;60299;60300	chr2:178559440;178559439;178559438	chr2:179424167;179424166;179424165
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: Fn3-98
• Domain position: 54
• Structural Position: 75
• Q(SASA): 0.5997
• 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/S	None	None	None	N	0.101	0.098	0.0551355673512	gnomAD-4.0.0	1.36848E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.79904E-06	0	0
N/Y	None	None	0.415	N	0.324	0.289	0.493628743246	gnomAD-4.0.0	2.40064E-06	None	None	None	None	N	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
N/A	0.1506	likely_benign	0.1788	benign	-0.362	Destabilizing	0.001	N	0.312	neutral	None	None	None	None	N
N/C	0.1706	likely_benign	0.1924	benign	0.539	Stabilizing	0.497	N	0.299	neutral	None	None	None	None	N
N/D	0.1588	likely_benign	0.1682	benign	-0.287	Destabilizing	0.002	N	0.253	neutral	N	0.420373465	None	None	N
N/E	0.4054	ambiguous	0.4405	ambiguous	-0.33	Destabilizing	None	N	0.125	neutral	None	None	None	None	N
N/F	0.401	ambiguous	0.4523	ambiguous	-0.747	Destabilizing	0.484	N	0.34	neutral	None	None	None	None	N
N/G	0.2012	likely_benign	0.228	benign	-0.531	Destabilizing	0.018	N	0.273	neutral	None	None	None	None	N
N/H	0.0917	likely_benign	0.0932	benign	-0.628	Destabilizing	0.21	N	0.34	neutral	N	0.412756846	None	None	N
N/I	0.1698	likely_benign	0.1928	benign	0.002	Stabilizing	0.116	N	0.363	neutral	N	0.46993828	None	None	N
N/K	0.3101	likely_benign	0.3253	benign	0.116	Stabilizing	0.048	N	0.202	neutral	N	0.401422345	None	None	N
N/L	0.1936	likely_benign	0.2097	benign	0.002	Stabilizing	0.047	N	0.343	neutral	None	None	None	None	N
N/M	0.2563	likely_benign	0.2834	benign	0.589	Stabilizing	0.517	D	0.289	neutral	None	None	None	None	N
N/P	0.75	likely_pathogenic	0.7668	pathogenic	-0.094	Destabilizing	0.036	N	0.346	neutral	None	None	None	None	N
N/Q	0.2665	likely_benign	0.2901	benign	-0.335	Destabilizing	0.024	N	0.302	neutral	None	None	None	None	N
N/R	0.3341	likely_benign	0.3337	benign	0.267	Stabilizing	0.117	N	0.294	neutral	None	None	None	None	N
N/S	0.0693	likely_benign	0.0757	benign	-0.012	Destabilizing	None	N	0.101	neutral	N	0.392936147	None	None	N
N/T	0.0882	likely_benign	0.1016	benign	0.072	Stabilizing	None	N	0.098	neutral	N	0.400326266	None	None	N
N/V	0.1697	likely_benign	0.1942	benign	-0.094	Destabilizing	0.004	N	0.325	neutral	None	None	None	None	N
N/W	0.7411	likely_pathogenic	0.7554	pathogenic	-0.721	Destabilizing	0.915	D	0.385	neutral	None	None	None	None	N
N/Y	0.15	likely_benign	0.1582	benign	-0.46	Destabilizing	0.415	N	0.324	neutral	N	0.454854185	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.