TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28742	86449;86450;86451	chr2:178559908;178559907;178559906	chr2:179424635;179424634;179424633
N2AB	27101	81526;81527;81528	chr2:178559908;178559907;178559906	chr2:179424635;179424634;179424633
N2A	26174	78745;78746;78747	chr2:178559908;178559907;178559906	chr2:179424635;179424634;179424633
N2B	19677	59254;59255;59256	chr2:178559908;178559907;178559906	chr2:179424635;179424634;179424633
Novex-1	19802	59629;59630;59631	chr2:178559908;178559907;178559906	chr2:179424635;179424634;179424633
Novex-2	19869	59830;59831;59832	chr2:178559908;178559907;178559906	chr2:179424635;179424634;179424633
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Fn3-97
• Domain position: 92
• Structural Position: 126
• Q(SASA): 0.3764
• 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
P/L	None	None	0.001	N	0.439	0.19	0.373173300195	gnomAD-4.0.0	1.59183E-06	None	None	None	None	N	None	0	2.28655E-05	None	0	0	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
P/A	0.0711	likely_benign	0.0739	benign	-0.725	Destabilizing	0.003	N	0.244	neutral	N	0.493193568	None	None	N
P/C	0.3396	likely_benign	0.3624	ambiguous	-0.596	Destabilizing	0.96	D	0.698	prob.delet.	None	None	None	None	N
P/D	0.5126	ambiguous	0.4947	ambiguous	-0.458	Destabilizing	0.373	N	0.525	neutral	None	None	None	None	N
P/E	0.2991	likely_benign	0.2905	benign	-0.557	Destabilizing	0.227	N	0.507	neutral	None	None	None	None	N
P/F	0.3338	likely_benign	0.3378	benign	-0.823	Destabilizing	0.34	N	0.709	prob.delet.	None	None	None	None	N
P/G	0.2855	likely_benign	0.2756	benign	-0.906	Destabilizing	0.227	N	0.549	neutral	None	None	None	None	N
P/H	0.1657	likely_benign	0.1672	benign	-0.445	Destabilizing	0.948	D	0.632	neutral	N	0.482441466	None	None	N
P/I	0.1703	likely_benign	0.189	benign	-0.386	Destabilizing	0.128	N	0.669	prob.neutral	None	None	None	None	N
P/K	0.1976	likely_benign	0.2001	benign	-0.584	Destabilizing	0.002	N	0.231	neutral	None	None	None	None	N
P/L	0.0868	likely_benign	0.0958	benign	-0.386	Destabilizing	0.001	N	0.439	neutral	N	0.511067253	None	None	N
P/M	0.2277	likely_benign	0.2432	benign	-0.297	Destabilizing	0.507	D	0.641	neutral	None	None	None	None	N
P/N	0.3192	likely_benign	0.3176	benign	-0.279	Destabilizing	0.676	D	0.621	neutral	None	None	None	None	N
P/Q	0.1463	likely_benign	0.1453	benign	-0.544	Destabilizing	0.507	D	0.55	neutral	None	None	None	None	N
P/R	0.1328	likely_benign	0.1312	benign	-0.022	Destabilizing	0.1	N	0.538	neutral	N	0.486960917	None	None	N
P/S	0.1218	likely_benign	0.1198	benign	-0.69	Destabilizing	0.1	N	0.516	neutral	N	0.506528225	None	None	N
P/T	0.0874	likely_benign	0.0918	benign	-0.688	Destabilizing	0.181	N	0.485	neutral	N	0.463323253	None	None	N
P/V	0.1283	likely_benign	0.1378	benign	-0.463	Destabilizing	0.128	N	0.547	neutral	None	None	None	None	N
P/W	0.5828	likely_pathogenic	0.5605	ambiguous	-0.906	Destabilizing	0.96	D	0.743	deleterious	None	None	None	None	N
P/Y	0.3514	ambiguous	0.3465	ambiguous	-0.611	Destabilizing	0.676	D	0.711	prob.delet.	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.