TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5247	15964;15965;15966	chr2:178733650;178733649;178733648	chr2:179598377;179598376;179598375
N2AB	4930	15013;15014;15015	chr2:178733650;178733649;178733648	chr2:179598377;179598376;179598375
N2A	4003	12232;12233;12234	chr2:178733650;178733649;178733648	chr2:179598377;179598376;179598375
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: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-35
• Domain position: 80
• Structural Position: 164
• Q(SASA): 0.2406
• 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
G/E	rs767464148	-0.876	1.0	D	0.843	0.747	0.856520570022	gnomAD-4.0.0	1.11584E-05	None	None	None	None	N	None	0	0	None	0	1.94272E-04	None	0	0	0	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
G/A	0.7361	likely_pathogenic	0.8078	pathogenic	-0.265	Destabilizing	1.0	D	0.745	deleterious	D	0.761311931	None	None	N
G/C	0.9372	likely_pathogenic	0.9528	pathogenic	-0.846	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	N
G/D	0.9522	likely_pathogenic	0.9624	pathogenic	-0.765	Destabilizing	1.0	D	0.86	deleterious	None	None	None	None	N
G/E	0.9679	likely_pathogenic	0.9729	pathogenic	-0.944	Destabilizing	1.0	D	0.843	deleterious	D	0.822604993	None	None	N
G/F	0.9839	likely_pathogenic	0.9898	pathogenic	-1.102	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	N
G/H	0.9848	likely_pathogenic	0.9886	pathogenic	-0.471	Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	N
G/I	0.9785	likely_pathogenic	0.9853	pathogenic	-0.505	Destabilizing	1.0	D	0.851	deleterious	None	None	None	None	N
G/K	0.9815	likely_pathogenic	0.9847	pathogenic	-0.773	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	N
G/L	0.981	likely_pathogenic	0.9865	pathogenic	-0.505	Destabilizing	1.0	D	0.842	deleterious	None	None	None	None	N
G/M	0.9867	likely_pathogenic	0.9908	pathogenic	-0.499	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	N
G/N	0.9646	likely_pathogenic	0.9702	pathogenic	-0.399	Destabilizing	1.0	D	0.809	deleterious	None	None	None	None	N
G/P	0.9984	likely_pathogenic	0.9992	pathogenic	-0.396	Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	N
G/Q	0.9676	likely_pathogenic	0.9736	pathogenic	-0.73	Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	N
G/R	0.9493	likely_pathogenic	0.9572	pathogenic	-0.284	Destabilizing	1.0	D	0.873	deleterious	D	0.808330757	None	None	N
G/S	0.6933	likely_pathogenic	0.7486	pathogenic	-0.488	Destabilizing	1.0	D	0.804	deleterious	None	None	None	None	N
G/T	0.9347	likely_pathogenic	0.9522	pathogenic	-0.61	Destabilizing	1.0	D	0.84	deleterious	None	None	None	None	N
G/V	0.9525	likely_pathogenic	0.9667	pathogenic	-0.396	Destabilizing	1.0	D	0.843	deleterious	D	0.874048119	None	None	N
G/W	0.9826	likely_pathogenic	0.9874	pathogenic	-1.22	Destabilizing	1.0	D	0.821	deleterious	None	None	None	None	N
G/Y	0.9789	likely_pathogenic	0.986	pathogenic	-0.889	Destabilizing	1.0	D	0.844	deleterious	None	None	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.