TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	35711	107356;107357;107358	chr2:178528620;178528619;178528618	chr2:179393347;179393346;179393345
N2AB	34070	102433;102434;102435	chr2:178528620;178528619;178528618	chr2:179393347;179393346;179393345
N2A	33143	99652;99653;99654	chr2:178528620;178528619;178528618	chr2:179393347;179393346;179393345
N2B	26646	80161;80162;80163	chr2:178528620;178528619;178528618	chr2:179393347;179393346;179393345
Novex-1	26771	80536;80537;80538	chr2:178528620;178528619;178528618	chr2:179393347;179393346;179393345
Novex-2	26838	80737;80738;80739	chr2:178528620;178528619;178528618	chr2:179393347;179393346;179393345
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: Ig-168
• Domain position: 10
• Structural Position: 13
• Q(SASA): 0.6658
• Predicted PPI site: I

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/P	None	None	0.999	N	0.619	0.62	0.572347844689	gnomAD-4.0.0	1.20058E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.31276E-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
Q/A	0.5401	ambiguous	0.5008	ambiguous	-0.836	Destabilizing	0.997	D	0.483	neutral	None	None	None	None	I
Q/C	0.8689	likely_pathogenic	0.8688	pathogenic	-0.134	Destabilizing	1.0	D	0.607	neutral	None	None	None	None	I
Q/D	0.8676	likely_pathogenic	0.8637	pathogenic	-0.28	Destabilizing	0.997	D	0.477	neutral	None	None	None	None	I
Q/E	0.1431	likely_benign	0.1407	benign	-0.124	Destabilizing	0.992	D	0.366	neutral	D	0.534443624	None	None	I
Q/F	0.9201	likely_pathogenic	0.9096	pathogenic	-0.437	Destabilizing	0.999	D	0.601	neutral	None	None	None	None	I
Q/G	0.6726	likely_pathogenic	0.6508	pathogenic	-1.23	Destabilizing	0.997	D	0.507	neutral	None	None	None	None	I
Q/H	0.61	likely_pathogenic	0.5984	pathogenic	-0.878	Destabilizing	0.999	D	0.549	neutral	N	0.519802245	None	None	I
Q/I	0.6198	likely_pathogenic	0.5611	ambiguous	0.196	Stabilizing	0.999	D	0.607	neutral	None	None	None	None	I
Q/K	0.164	likely_benign	0.1506	benign	-0.132	Destabilizing	0.997	D	0.459	neutral	N	0.49836818	None	None	I
Q/L	0.3327	likely_benign	0.2957	benign	0.196	Stabilizing	0.997	D	0.507	neutral	N	0.441530676	None	None	I
Q/M	0.5509	ambiguous	0.5139	ambiguous	0.526	Stabilizing	0.999	D	0.547	neutral	None	None	None	None	I
Q/N	0.7513	likely_pathogenic	0.7435	pathogenic	-0.809	Destabilizing	0.999	D	0.546	neutral	None	None	None	None	I
Q/P	0.8973	likely_pathogenic	0.897	pathogenic	-0.118	Destabilizing	0.999	D	0.619	neutral	N	0.484896316	None	None	I
Q/R	0.1961	likely_benign	0.1826	benign	-0.193	Destabilizing	0.997	D	0.477	neutral	N	0.501408486	None	None	I
Q/S	0.6794	likely_pathogenic	0.6576	pathogenic	-1.028	Destabilizing	0.997	D	0.44	neutral	None	None	None	None	I
Q/T	0.53	ambiguous	0.5003	ambiguous	-0.65	Destabilizing	0.999	D	0.585	neutral	None	None	None	None	I
Q/V	0.4505	ambiguous	0.3959	ambiguous	-0.118	Destabilizing	0.999	D	0.542	neutral	None	None	None	None	I
Q/W	0.8702	likely_pathogenic	0.8574	pathogenic	-0.247	Destabilizing	1.0	D	0.607	neutral	None	None	None	None	I
Q/Y	0.83	likely_pathogenic	0.8057	pathogenic	-0.014	Destabilizing	0.999	D	0.61	neutral	None	None	None	None	I

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.