TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31367	94324;94325;94326	chr2:178547527;178547526;178547525	chr2:179412254;179412253;179412252
N2AB	29726	89401;89402;89403	chr2:178547527;178547526;178547525	chr2:179412254;179412253;179412252
N2A	28799	86620;86621;86622	chr2:178547527;178547526;178547525	chr2:179412254;179412253;179412252
N2B	22302	67129;67130;67131	chr2:178547527;178547526;178547525	chr2:179412254;179412253;179412252
Novex-1	22427	67504;67505;67506	chr2:178547527;178547526;178547525	chr2:179412254;179412253;179412252
Novex-2	22494	67705;67706;67707	chr2:178547527;178547526;178547525	chr2:179412254;179412253;179412252
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: Fn3-116
• Domain position: 60
• Structural Position: 90
• Q(SASA): 0.3809
• 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/H	None	None	0.996	N	0.469	0.201	0.204665344411	gnomAD-4.0.0	6.84259E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99489E-07	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	0.2421	likely_benign	0.228	benign	-0.638	Destabilizing	0.863	D	0.44	neutral	None	None	None	None	N
Q/C	0.5852	likely_pathogenic	0.5625	ambiguous	-0.06	Destabilizing	0.999	D	0.585	neutral	None	None	None	None	N
Q/D	0.5242	ambiguous	0.4727	ambiguous	-0.043	Destabilizing	0.969	D	0.345	neutral	None	None	None	None	N
Q/E	0.0947	likely_benign	0.0949	benign	0.061	Stabilizing	0.906	D	0.403	neutral	N	0.427782227	None	None	N
Q/F	0.7295	likely_pathogenic	0.713	pathogenic	-0.306	Destabilizing	0.997	D	0.595	neutral	None	None	None	None	N
Q/G	0.3837	ambiguous	0.354	ambiguous	-0.982	Destabilizing	0.969	D	0.474	neutral	None	None	None	None	N
Q/H	0.2072	likely_benign	0.196	benign	-0.574	Destabilizing	0.996	D	0.469	neutral	N	0.439308729	None	None	N
Q/I	0.4179	ambiguous	0.4263	ambiguous	0.238	Stabilizing	0.982	D	0.582	neutral	None	None	None	None	N
Q/K	0.1308	likely_benign	0.1319	benign	-0.167	Destabilizing	0.826	D	0.371	neutral	N	0.400462339	None	None	N
Q/L	0.1847	likely_benign	0.1842	benign	0.238	Stabilizing	0.92	D	0.47	neutral	N	0.477827045	None	None	N
Q/M	0.3166	likely_benign	0.3244	benign	0.432	Stabilizing	0.997	D	0.467	neutral	None	None	None	None	N
Q/N	0.3118	likely_benign	0.2812	benign	-0.724	Destabilizing	0.969	D	0.313	neutral	None	None	None	None	N
Q/P	0.8771	likely_pathogenic	0.8337	pathogenic	-0.023	Destabilizing	0.986	D	0.506	neutral	N	0.492641782	None	None	N
Q/R	0.14	likely_benign	0.135	benign	-0.079	Destabilizing	0.959	D	0.319	neutral	N	0.431745252	None	None	N
Q/S	0.226	likely_benign	0.2034	benign	-0.883	Destabilizing	0.759	D	0.385	neutral	None	None	None	None	N
Q/T	0.1364	likely_benign	0.1396	benign	-0.578	Destabilizing	0.079	N	0.297	neutral	None	None	None	None	N
Q/V	0.2461	likely_benign	0.242	benign	-0.023	Destabilizing	0.939	D	0.468	neutral	None	None	None	None	N
Q/W	0.6452	likely_pathogenic	0.625	pathogenic	-0.158	Destabilizing	0.999	D	0.587	neutral	None	None	None	None	N
Q/Y	0.4895	ambiguous	0.4753	ambiguous	0.057	Stabilizing	0.997	D	0.554	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.