TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29482	88669;88670;88671	chr2:178555015;178555014;178555013	chr2:179419742;179419741;179419740
N2AB	27841	83746;83747;83748	chr2:178555015;178555014;178555013	chr2:179419742;179419741;179419740
N2A	26914	80965;80966;80967	chr2:178555015;178555014;178555013	chr2:179419742;179419741;179419740
N2B	20417	61474;61475;61476	chr2:178555015;178555014;178555013	chr2:179419742;179419741;179419740
Novex-1	20542	61849;61850;61851	chr2:178555015;178555014;178555013	chr2:179419742;179419741;179419740
Novex-2	20609	62050;62051;62052	chr2:178555015;178555014;178555013	chr2:179419742;179419741;179419740
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-146
• Domain position: 39
• Structural Position: 69
• Q(SASA): 0.8762
• 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	rs1489773324	None	0.01	N	0.199	0.141	0.170165803431	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	0	0	0	0	0	None	0	0	1.47E-05	0	0
Q/K	rs1489773324	None	0.01	N	0.199	0.141	0.170165803431	gnomAD-4.0.0	6.57237E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.4699E-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	0.1916	likely_benign	0.1757	benign	-0.048	Destabilizing	0.495	N	0.306	neutral	None	None	None	None	N
Q/C	0.5411	ambiguous	0.498	ambiguous	0.003	Stabilizing	0.995	D	0.296	neutral	None	None	None	None	N
Q/D	0.3009	likely_benign	0.2652	benign	-0.063	Destabilizing	0.329	N	0.272	neutral	None	None	None	None	N
Q/E	0.0806	likely_benign	0.0752	benign	-0.109	Destabilizing	0.001	N	0.158	neutral	N	0.437242364	None	None	N
Q/F	0.5895	likely_pathogenic	0.5403	ambiguous	-0.409	Destabilizing	0.893	D	0.332	neutral	None	None	None	None	N
Q/G	0.2533	likely_benign	0.2251	benign	-0.178	Destabilizing	0.665	D	0.375	neutral	None	None	None	None	N
Q/H	0.174	likely_benign	0.1623	benign	-0.006	Destabilizing	0.927	D	0.325	neutral	N	0.490176235	None	None	N
Q/I	0.2822	likely_benign	0.259	benign	0.197	Stabilizing	0.543	D	0.417	neutral	None	None	None	None	N
Q/K	0.0827	likely_benign	0.0765	benign	0.041	Stabilizing	0.01	N	0.199	neutral	N	0.429641601	None	None	N
Q/L	0.1086	likely_benign	0.1021	benign	0.197	Stabilizing	0.002	N	0.203	neutral	N	0.499947048	None	None	N
Q/M	0.3069	likely_benign	0.2833	benign	0.181	Stabilizing	0.893	D	0.319	neutral	None	None	None	None	N
Q/N	0.2525	likely_benign	0.2323	benign	-0.23	Destabilizing	0.704	D	0.285	neutral	None	None	None	None	N
Q/P	0.0959	likely_benign	0.0902	benign	0.141	Stabilizing	0.784	D	0.417	neutral	N	0.466103833	None	None	N
Q/R	0.0997	likely_benign	0.0923	benign	0.216	Stabilizing	0.27	N	0.29	neutral	N	0.464716967	None	None	N
Q/S	0.2213	likely_benign	0.2094	benign	-0.195	Destabilizing	0.329	N	0.247	neutral	None	None	None	None	N
Q/T	0.1769	likely_benign	0.1643	benign	-0.11	Destabilizing	0.031	N	0.203	neutral	None	None	None	None	N
Q/V	0.178	likely_benign	0.1673	benign	0.141	Stabilizing	0.329	N	0.351	neutral	None	None	None	None	N
Q/W	0.4845	ambiguous	0.4141	ambiguous	-0.481	Destabilizing	0.995	D	0.313	neutral	None	None	None	None	N
Q/Y	0.4016	ambiguous	0.3574	ambiguous	-0.184	Destabilizing	0.944	D	0.353	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.