TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22967	69124;69125;69126	chr2:178577436;178577435;178577434	chr2:179442163;179442162;179442161
N2AB	21326	64201;64202;64203	chr2:178577436;178577435;178577434	chr2:179442163;179442162;179442161
N2A	20399	61420;61421;61422	chr2:178577436;178577435;178577434	chr2:179442163;179442162;179442161
N2B	13902	41929;41930;41931	chr2:178577436;178577435;178577434	chr2:179442163;179442162;179442161
Novex-1	14027	42304;42305;42306	chr2:178577436;178577435;178577434	chr2:179442163;179442162;179442161
Novex-2	14094	42505;42506;42507	chr2:178577436;178577435;178577434	chr2:179442163;179442162;179442161
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-128
• Domain position: 18
• Structural Position: 31
• Q(SASA): 0.1643
• 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	0.205	0.127	0.0401082797425	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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	0.1593	likely_benign	0.1473	benign	-0.693	Destabilizing	0.007	N	0.672	neutral	None	None	None	None	N
N/C	0.1963	likely_benign	0.1779	benign	0.17	Stabilizing	0.356	N	0.751	deleterious	None	None	None	None	N
N/D	0.1251	likely_benign	0.116	benign	-0.038	Destabilizing	0.012	N	0.55	neutral	N	0.416099087	None	None	N
N/E	0.2655	likely_benign	0.2321	benign	0.009	Stabilizing	0.016	N	0.577	neutral	None	None	None	None	N
N/F	0.5486	ambiguous	0.4947	ambiguous	-0.673	Destabilizing	0.356	N	0.768	deleterious	None	None	None	None	N
N/G	0.1792	likely_benign	0.1708	benign	-0.98	Destabilizing	0.007	N	0.458	neutral	None	None	None	None	N
N/H	0.088	likely_benign	0.0727	benign	-0.797	Destabilizing	0.295	N	0.655	neutral	N	0.456638988	None	None	N
N/I	0.2842	likely_benign	0.2514	benign	0.008	Stabilizing	0.055	N	0.759	deleterious	N	0.481324002	None	None	N
N/K	0.19	likely_benign	0.1546	benign	-0.109	Destabilizing	0.012	N	0.582	neutral	N	0.427796161	None	None	N
N/L	0.2412	likely_benign	0.2294	benign	0.008	Stabilizing	0.016	N	0.712	prob.delet.	None	None	None	None	N
N/M	0.3199	likely_benign	0.2924	benign	0.394	Stabilizing	0.628	D	0.732	prob.delet.	None	None	None	None	N
N/P	0.4654	ambiguous	0.4659	ambiguous	-0.196	Destabilizing	None	N	0.531	neutral	None	None	None	None	N
N/Q	0.2248	likely_benign	0.1892	benign	-0.616	Destabilizing	0.072	N	0.679	prob.neutral	None	None	None	None	N
N/R	0.2308	likely_benign	0.1863	benign	-0.113	Destabilizing	0.072	N	0.675	neutral	None	None	None	None	N
N/S	0.0588	likely_benign	0.0634	benign	-0.592	Destabilizing	None	N	0.205	neutral	N	0.428873597	None	None	N
N/T	0.0843	likely_benign	0.081	benign	-0.359	Destabilizing	None	N	0.257	neutral	N	0.369094574	None	None	N
N/V	0.2676	likely_benign	0.2354	benign	-0.196	Destabilizing	0.016	N	0.707	prob.neutral	None	None	None	None	N
N/W	0.6697	likely_pathogenic	0.6352	pathogenic	-0.499	Destabilizing	0.864	D	0.767	deleterious	None	None	None	None	N
N/Y	0.1495	likely_benign	0.1316	benign	-0.289	Destabilizing	0.295	N	0.76	deleterious	N	0.4539454	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.