TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29629	89110;89111;89112	chr2:178554462;178554461;178554460	chr2:179419189;179419188;179419187
N2AB	27988	84187;84188;84189	chr2:178554462;178554461;178554460	chr2:179419189;179419188;179419187
N2A	27061	81406;81407;81408	chr2:178554462;178554461;178554460	chr2:179419189;179419188;179419187
N2B	20564	61915;61916;61917	chr2:178554462;178554461;178554460	chr2:179419189;179419188;179419187
Novex-1	20689	62290;62291;62292	chr2:178554462;178554461;178554460	chr2:179419189;179419188;179419187
Novex-2	20756	62491;62492;62493	chr2:178554462;178554461;178554460	chr2:179419189;179419188;179419187
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: Fn3-103
• Domain position: 97
• Structural Position: 132
• Q(SASA): 1.1924
• 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/K	rs759136146	None	1.0	N	0.757	0.235	0.104622674875	gnomAD-4.0.0	4.79221E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	6.29798E-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	0.827	likely_pathogenic	0.8506	pathogenic	-0.215	Destabilizing	0.999	D	0.625	neutral	None	None	None	None	N
N/C	0.853	likely_pathogenic	0.8694	pathogenic	0.409	Stabilizing	1.0	D	0.84	deleterious	None	None	None	None	N
N/D	0.3074	likely_benign	0.3022	benign	0.085	Stabilizing	0.997	D	0.71	prob.delet.	N	0.38604746	None	None	N
N/E	0.9048	likely_pathogenic	0.9121	pathogenic	0.036	Stabilizing	0.998	D	0.753	deleterious	None	None	None	None	N
N/F	0.9143	likely_pathogenic	0.9264	pathogenic	-0.661	Destabilizing	1.0	D	0.773	deleterious	None	None	None	None	N
N/G	0.8592	likely_pathogenic	0.8744	pathogenic	-0.363	Destabilizing	0.998	D	0.625	neutral	None	None	None	None	N
N/H	0.4618	ambiguous	0.4591	ambiguous	-0.44	Destabilizing	0.999	D	0.801	deleterious	N	0.501775766	None	None	N
N/I	0.7734	likely_pathogenic	0.7884	pathogenic	0.083	Stabilizing	0.999	D	0.786	deleterious	N	0.463625968	None	None	N
N/K	0.9385	likely_pathogenic	0.9424	pathogenic	0.132	Stabilizing	1.0	D	0.757	deleterious	N	0.514262274	None	None	N
N/L	0.7562	likely_pathogenic	0.7652	pathogenic	0.083	Stabilizing	0.999	D	0.729	deleterious	None	None	None	None	N
N/M	0.7709	likely_pathogenic	0.8055	pathogenic	0.399	Stabilizing	1.0	D	0.821	deleterious	None	None	None	None	N
N/P	0.8813	likely_pathogenic	0.9025	pathogenic	0.009	Stabilizing	0.999	D	0.772	deleterious	None	None	None	None	N
N/Q	0.8971	likely_pathogenic	0.9051	pathogenic	-0.258	Destabilizing	0.999	D	0.773	deleterious	None	None	None	None	N
N/R	0.9519	likely_pathogenic	0.9571	pathogenic	0.182	Stabilizing	0.999	D	0.779	deleterious	None	None	None	None	N
N/S	0.3736	ambiguous	0.3684	ambiguous	-0.01	Destabilizing	0.997	D	0.635	neutral	N	0.483016647	None	None	N
N/T	0.6064	likely_pathogenic	0.6192	pathogenic	0.071	Stabilizing	0.997	D	0.749	deleterious	N	0.45664283	None	None	N
N/V	0.7918	likely_pathogenic	0.8113	pathogenic	0.009	Stabilizing	0.999	D	0.734	deleterious	None	None	None	None	N
N/W	0.967	likely_pathogenic	0.9697	pathogenic	-0.701	Destabilizing	1.0	D	0.761	deleterious	None	None	None	None	N
N/Y	0.5058	ambiguous	0.5284	ambiguous	-0.415	Destabilizing	1.0	D	0.795	deleterious	N	0.484806158	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.