TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6881	20866;20867;20868	chr2:178725563;178725562;178725561	chr2:179590290;179590289;179590288
N2AB	6564	19915;19916;19917	chr2:178725563;178725562;178725561	chr2:179590290;179590289;179590288
N2A	5637	17134;17135;17136	chr2:178725563;178725562;178725561	chr2:179590290;179590289;179590288
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-53
• Domain position: 28
• Structural Position: 42
• Q(SASA): 0.7596
• 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/L	None	None	0.324	N	0.477	0.193	0.367992661779	gnomAD-4.0.0	2.73805E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	3.5989E-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	0.1434	likely_benign	0.1467	benign	-0.085	Destabilizing	0.116	N	0.389	neutral	None	None	None	None	I
Q/C	0.6551	likely_pathogenic	0.6735	pathogenic	-0.015	Destabilizing	0.981	D	0.429	neutral	None	None	None	None	I
Q/D	0.3169	likely_benign	0.2976	benign	-0.021	Destabilizing	0.116	N	0.373	neutral	None	None	None	None	I
Q/E	0.0806	likely_benign	0.0767	benign	-0.056	Destabilizing	0.003	N	0.113	neutral	N	0.437799724	None	None	I
Q/F	0.5513	ambiguous	0.5819	pathogenic	-0.387	Destabilizing	0.932	D	0.435	neutral	None	None	None	None	I
Q/G	0.2395	likely_benign	0.2258	benign	-0.236	Destabilizing	0.388	N	0.386	neutral	None	None	None	None	I
Q/H	0.2306	likely_benign	0.2215	benign	0.005	Stabilizing	0.912	D	0.39	neutral	N	0.497075542	None	None	I
Q/I	0.316	likely_benign	0.3331	benign	0.216	Stabilizing	0.818	D	0.456	neutral	None	None	None	None	I
Q/K	0.0914	likely_benign	0.0879	benign	0.047	Stabilizing	0.165	N	0.399	neutral	N	0.499560259	None	None	I
Q/L	0.1074	likely_benign	0.1196	benign	0.216	Stabilizing	0.324	N	0.477	neutral	N	0.497541461	None	None	I
Q/M	0.2939	likely_benign	0.3259	benign	0.189	Stabilizing	0.932	D	0.389	neutral	None	None	None	None	I
Q/N	0.2657	likely_benign	0.2597	benign	-0.29	Destabilizing	0.563	D	0.439	neutral	None	None	None	None	I
Q/P	0.0719	likely_benign	0.0776	benign	0.142	Stabilizing	0.001	N	0.133	neutral	N	0.404638795	None	None	I
Q/R	0.1121	likely_benign	0.1136	benign	0.25	Stabilizing	0.324	N	0.417	neutral	N	0.516049864	None	None	I
Q/S	0.1667	likely_benign	0.1675	benign	-0.26	Destabilizing	0.207	N	0.371	neutral	None	None	None	None	I
Q/T	0.1774	likely_benign	0.1812	benign	-0.155	Destabilizing	0.388	N	0.449	neutral	None	None	None	None	I
Q/V	0.2042	likely_benign	0.2151	benign	0.142	Stabilizing	0.388	N	0.477	neutral	None	None	None	None	I
Q/W	0.497	ambiguous	0.524	ambiguous	-0.436	Destabilizing	0.981	D	0.439	neutral	None	None	None	None	I
Q/Y	0.3936	ambiguous	0.4124	ambiguous	-0.147	Destabilizing	0.932	D	0.433	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.