TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9151	27676;27677;27678	chr2:178712471;178712470;178712469	chr2:179577198;179577197;179577196
N2AB	8834	26725;26726;26727	chr2:178712471;178712470;178712469	chr2:179577198;179577197;179577196
N2A	7907	23944;23945;23946	chr2:178712471;178712470;178712469	chr2:179577198;179577197;179577196
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: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-77
• Domain position: 40
• Structural Position: 56
• Q(SASA): 0.4969
• 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	rs752655439	0.001	0.028	N	0.197	0.1	0.115124310173	gnomAD-2.1.1	8.03E-06	None	None	None	None	N	None	0	0	None	0	0	None	6.54E-05	None	0	0	0
N/S	rs752655439	0.001	0.028	N	0.197	0.1	0.115124310173	gnomAD-3.1.2	1.31E-05	None	None	None	None	N	None	0	0	0	0	0	None	0	0	0	4.14422E-04	0
N/S	rs752655439	0.001	0.028	N	0.197	0.1	0.115124310173	gnomAD-4.0.0	8.67595E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.53711E-04	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	0.0907	likely_benign	0.0881	benign	-0.371	Destabilizing	0.036	N	0.278	neutral	None	None	None	None	N
N/C	0.1935	likely_benign	0.1758	benign	0.293	Stabilizing	0.901	D	0.375	neutral	None	None	None	None	N
N/D	0.0775	likely_benign	0.0743	benign	0.135	Stabilizing	0.061	N	0.212	neutral	N	0.4722963	None	None	N
N/E	0.1598	likely_benign	0.1543	benign	0.112	Stabilizing	None	N	0.077	neutral	None	None	None	None	N
N/F	0.2576	likely_benign	0.2403	benign	-0.639	Destabilizing	0.296	N	0.471	neutral	None	None	None	None	N
N/G	0.1814	likely_benign	0.1623	benign	-0.566	Destabilizing	0.148	N	0.2	neutral	None	None	None	None	N
N/H	0.0774	likely_benign	0.0763	benign	-0.547	Destabilizing	0.693	D	0.273	neutral	N	0.512990916	None	None	N
N/I	0.0877	likely_benign	0.0875	benign	0.061	Stabilizing	0.001	N	0.282	neutral	N	0.437109078	None	None	N
N/K	0.14	likely_benign	0.1401	benign	0.049	Stabilizing	None	N	0.075	neutral	N	0.444744339	None	None	N
N/L	0.1127	likely_benign	0.1077	benign	0.061	Stabilizing	0.001	N	0.222	neutral	None	None	None	None	N
N/M	0.1646	likely_benign	0.1569	benign	0.351	Stabilizing	0.596	D	0.401	neutral	None	None	None	None	N
N/P	0.1721	likely_benign	0.1578	benign	-0.055	Destabilizing	0.46	N	0.429	neutral	None	None	None	None	N
N/Q	0.1645	likely_benign	0.1612	benign	-0.406	Destabilizing	0.007	N	0.078	neutral	None	None	None	None	N
N/R	0.1484	likely_benign	0.15	benign	0.091	Stabilizing	0.001	N	0.106	neutral	None	None	None	None	N
N/S	0.0628	likely_benign	0.0609	benign	-0.208	Destabilizing	0.028	N	0.197	neutral	N	0.454230614	None	None	N
N/T	0.07	likely_benign	0.0691	benign	-0.082	Destabilizing	0.116	N	0.194	neutral	N	0.452499818	None	None	N
N/V	0.0969	likely_benign	0.0962	benign	-0.055	Destabilizing	0.08	N	0.36	neutral	None	None	None	None	N
N/W	0.4898	ambiguous	0.4614	ambiguous	-0.587	Destabilizing	0.972	D	0.386	neutral	None	None	None	None	N
N/Y	0.1008	likely_benign	0.098	benign	-0.338	Destabilizing	0.662	D	0.449	neutral	N	0.519263528	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.