TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17957	54094;54095;54096	chr2:178605426;178605425;178605424	chr2:179470153;179470152;179470151
N2AB	16316	49171;49172;49173	chr2:178605426;178605425;178605424	chr2:179470153;179470152;179470151
N2A	15389	46390;46391;46392	chr2:178605426;178605425;178605424	chr2:179470153;179470152;179470151
N2B	8892	26899;26900;26901	chr2:178605426;178605425;178605424	chr2:179470153;179470152;179470151
Novex-1	9017	27274;27275;27276	chr2:178605426;178605425;178605424	chr2:179470153;179470152;179470151
Novex-2	9084	27475;27476;27477	chr2:178605426;178605425;178605424	chr2:179470153;179470152;179470151
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Fn3-18
• Domain position: 96
• Structural Position: 130
• Q(SASA): 0.0567
• 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
Q/K	rs2054555102	None	0.905	N	0.562	0.262	0.17258766438	gnomAD-4.0.0	6.90983E-07	None	None	None	None	N	None	0	0	None	0	2.54311E-05	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
Q/A	0.5667	likely_pathogenic	0.5488	ambiguous	-0.254	Destabilizing	0.968	D	0.607	neutral	None	None	None	None	N
Q/C	0.9477	likely_pathogenic	0.9336	pathogenic	-0.16	Destabilizing	1.0	D	0.798	deleterious	None	None	None	None	N
Q/D	0.946	likely_pathogenic	0.9356	pathogenic	-1.81	Destabilizing	0.939	D	0.541	neutral	None	None	None	None	N
Q/E	0.2909	likely_benign	0.2473	benign	-1.643	Destabilizing	0.236	N	0.277	neutral	N	0.471415574	None	None	N
Q/F	0.9667	likely_pathogenic	0.9596	pathogenic	0.069	Stabilizing	0.998	D	0.803	deleterious	None	None	None	None	N
Q/G	0.7442	likely_pathogenic	0.7403	pathogenic	-0.637	Destabilizing	0.984	D	0.711	prob.delet.	None	None	None	None	N
Q/H	0.8272	likely_pathogenic	0.7791	pathogenic	-0.85	Destabilizing	0.998	D	0.643	neutral	N	0.476098364	None	None	N
Q/I	0.8208	likely_pathogenic	0.7905	pathogenic	0.742	Stabilizing	0.998	D	0.805	deleterious	None	None	None	None	N
Q/K	0.4812	ambiguous	0.4213	ambiguous	-0.568	Destabilizing	0.905	D	0.562	neutral	N	0.423931058	None	None	N
Q/L	0.5782	likely_pathogenic	0.5246	ambiguous	0.742	Stabilizing	0.979	D	0.711	prob.delet.	N	0.513798127	None	None	N
Q/M	0.6533	likely_pathogenic	0.6289	pathogenic	0.985	Stabilizing	0.998	D	0.659	prob.neutral	None	None	None	None	N
Q/N	0.8238	likely_pathogenic	0.8031	pathogenic	-1.26	Destabilizing	0.984	D	0.645	neutral	None	None	None	None	N
Q/P	0.973	likely_pathogenic	0.9657	pathogenic	0.44	Stabilizing	0.998	D	0.654	prob.neutral	N	0.501274334	None	None	N
Q/R	0.4684	ambiguous	0.4156	ambiguous	-0.743	Destabilizing	0.958	D	0.594	neutral	N	0.453368531	None	None	N
Q/S	0.6046	likely_pathogenic	0.6037	pathogenic	-1.212	Destabilizing	0.968	D	0.574	neutral	None	None	None	None	N
Q/T	0.5196	ambiguous	0.5259	ambiguous	-0.887	Destabilizing	0.984	D	0.669	prob.neutral	None	None	None	None	N
Q/V	0.6437	likely_pathogenic	0.6136	pathogenic	0.44	Stabilizing	0.995	D	0.733	deleterious	None	None	None	None	N
Q/W	0.9694	likely_pathogenic	0.9598	pathogenic	-0.183	Destabilizing	1.0	D	0.744	deleterious	None	None	None	None	N
Q/Y	0.957	likely_pathogenic	0.9421	pathogenic	0.236	Stabilizing	0.998	D	0.674	prob.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.