TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15222	45889;45890;45891	chr2:178620946;178620945;178620944	chr2:179485673;179485672;179485671
N2AB	13581	40966;40967;40968	chr2:178620946;178620945;178620944	chr2:179485673;179485672;179485671
N2A	12654	38185;38186;38187	chr2:178620946;178620945;178620944	chr2:179485673;179485672;179485671
N2B	6157	18694;18695;18696	chr2:178620946;178620945;178620944	chr2:179485673;179485672;179485671
Novex-1	6282	19069;19070;19071	chr2:178620946;178620945;178620944	chr2:179485673;179485672;179485671
Novex-2	6349	19270;19271;19272	chr2:178620946;178620945;178620944	chr2:179485673;179485672;179485671
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-104
• Domain position: 15
• Structural Position: 24
• Q(SASA): 0.7901
• 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	rs2058168500	None	0.101	N	0.365	0.17	0.148003135375	gnomAD-4.0.0	8.21724E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.07987E-05	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	0.2344	likely_benign	0.2489	benign	-0.283	Destabilizing	0.027	N	0.328	neutral	None	None	None	None	N
Q/C	0.5964	likely_pathogenic	0.6163	pathogenic	0.354	Stabilizing	0.002	N	0.341	neutral	None	None	None	None	N
Q/D	0.2943	likely_benign	0.3142	benign	-0.198	Destabilizing	0.129	N	0.353	neutral	None	None	None	None	N
Q/E	0.1023	likely_benign	0.0985	benign	-0.212	Destabilizing	0.001	N	0.177	neutral	N	0.424272929	None	None	N
Q/F	0.6472	likely_pathogenic	0.6767	pathogenic	-0.344	Destabilizing	0.94	D	0.477	neutral	None	None	None	None	N
Q/G	0.1261	likely_benign	0.1243	benign	-0.511	Destabilizing	None	N	0.217	neutral	None	None	None	None	N
Q/H	0.2142	likely_benign	0.2378	benign	-0.435	Destabilizing	0.794	D	0.374	neutral	N	0.443142171	None	None	N
Q/I	0.5733	likely_pathogenic	0.5854	pathogenic	0.245	Stabilizing	0.418	N	0.492	neutral	None	None	None	None	N
Q/K	0.0812	likely_benign	0.0836	benign	-0.118	Destabilizing	0.101	N	0.365	neutral	N	0.394963905	None	None	N
Q/L	0.1664	likely_benign	0.1692	benign	0.245	Stabilizing	0.101	N	0.407	neutral	N	0.478735164	None	None	N
Q/M	0.3853	ambiguous	0.3972	ambiguous	0.564	Stabilizing	0.94	D	0.378	neutral	None	None	None	None	N
Q/N	0.1826	likely_benign	0.2046	benign	-0.217	Destabilizing	0.228	N	0.323	neutral	None	None	None	None	N
Q/P	0.3942	ambiguous	0.3914	ambiguous	0.098	Stabilizing	0.523	D	0.453	neutral	N	0.478735164	None	None	N
Q/R	0.1005	likely_benign	0.0981	benign	0.068	Stabilizing	0.351	N	0.331	neutral	N	0.425351105	None	None	N
Q/S	0.221	likely_benign	0.2458	benign	-0.256	Destabilizing	0.061	N	0.333	neutral	None	None	None	None	N
Q/T	0.24	likely_benign	0.2642	benign	-0.125	Destabilizing	0.228	N	0.408	neutral	None	None	None	None	N
Q/V	0.4366	ambiguous	0.4469	ambiguous	0.098	Stabilizing	0.228	N	0.411	neutral	None	None	None	None	N
Q/W	0.5715	likely_pathogenic	0.5292	ambiguous	-0.326	Destabilizing	0.983	D	0.454	neutral	None	None	None	None	N
Q/Y	0.4148	ambiguous	0.4277	ambiguous	-0.108	Destabilizing	0.94	D	0.462	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.