TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15171	45736;45737;45738	chr2:178621207;178621206;178621205	chr2:179485934;179485933;179485932
N2AB	13530	40813;40814;40815	chr2:178621207;178621206;178621205	chr2:179485934;179485933;179485932
N2A	12603	38032;38033;38034	chr2:178621207;178621206;178621205	chr2:179485934;179485933;179485932
N2B	6106	18541;18542;18543	chr2:178621207;178621206;178621205	chr2:179485934;179485933;179485932
Novex-1	6231	18916;18917;18918	chr2:178621207;178621206;178621205	chr2:179485934;179485933;179485932
Novex-2	6298	19117;19118;19119	chr2:178621207;178621206;178621205	chr2:179485934;179485933;179485932
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGT
• RefSeq wild type template codon: CCA
• Domain: Ig-103
• Domain position: 52
• Structural Position: 131
• Q(SASA): 0.2408
• 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/V	None	None	1.0	D	0.689	0.628	0.748507113192	gnomAD-4.0.0	1.5939E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86185E-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
G/A	0.4664	ambiguous	0.4489	ambiguous	-0.398	Destabilizing	1.0	D	0.585	neutral	D	0.545510172	None	None	N
G/C	0.6714	likely_pathogenic	0.6189	pathogenic	-0.916	Destabilizing	1.0	D	0.653	neutral	D	0.70933798	None	None	N
G/D	0.4619	ambiguous	0.406	ambiguous	-0.8	Destabilizing	1.0	D	0.683	prob.neutral	N	0.508699267	None	None	N
G/E	0.5137	ambiguous	0.4638	ambiguous	-0.957	Destabilizing	1.0	D	0.681	prob.neutral	None	None	None	None	N
G/F	0.9379	likely_pathogenic	0.9278	pathogenic	-1.047	Destabilizing	1.0	D	0.652	neutral	None	None	None	None	N
G/H	0.7608	likely_pathogenic	0.7095	pathogenic	-0.664	Destabilizing	1.0	D	0.641	neutral	None	None	None	None	N
G/I	0.8781	likely_pathogenic	0.851	pathogenic	-0.466	Destabilizing	1.0	D	0.653	neutral	None	None	None	None	N
G/K	0.708	likely_pathogenic	0.6581	pathogenic	-1.014	Destabilizing	1.0	D	0.682	prob.neutral	None	None	None	None	N
G/L	0.8973	likely_pathogenic	0.8788	pathogenic	-0.466	Destabilizing	1.0	D	0.687	prob.neutral	None	None	None	None	N
G/M	0.9056	likely_pathogenic	0.8881	pathogenic	-0.457	Destabilizing	1.0	D	0.653	neutral	None	None	None	None	N
G/N	0.51	ambiguous	0.459	ambiguous	-0.627	Destabilizing	1.0	D	0.71	prob.delet.	None	None	None	None	N
G/P	0.9806	likely_pathogenic	0.9776	pathogenic	-0.409	Destabilizing	1.0	D	0.675	prob.neutral	None	None	None	None	N
G/Q	0.629	likely_pathogenic	0.5803	pathogenic	-0.934	Destabilizing	1.0	D	0.668	neutral	None	None	None	None	N
G/R	0.5625	ambiguous	0.5302	ambiguous	-0.511	Destabilizing	1.0	D	0.671	neutral	D	0.548885324	None	None	N
G/S	0.2205	likely_benign	0.2109	benign	-0.772	Destabilizing	1.0	D	0.699	prob.neutral	N	0.4797231	None	None	N
G/T	0.6197	likely_pathogenic	0.5952	pathogenic	-0.863	Destabilizing	1.0	D	0.678	prob.neutral	None	None	None	None	N
G/V	0.7894	likely_pathogenic	0.7638	pathogenic	-0.409	Destabilizing	1.0	D	0.689	prob.neutral	D	0.648326666	None	None	N
G/W	0.8432	likely_pathogenic	0.8121	pathogenic	-1.21	Destabilizing	1.0	D	0.644	neutral	None	None	None	None	N
G/Y	0.8737	likely_pathogenic	0.8558	pathogenic	-0.87	Destabilizing	1.0	D	0.652	neutral	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.