TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15184	45775;45776;45777	chr2:178621168;178621167;178621166	chr2:179485895;179485894;179485893
N2AB	13543	40852;40853;40854	chr2:178621168;178621167;178621166	chr2:179485895;179485894;179485893
N2A	12616	38071;38072;38073	chr2:178621168;178621167;178621166	chr2:179485895;179485894;179485893
N2B	6119	18580;18581;18582	chr2:178621168;178621167;178621166	chr2:179485895;179485894;179485893
Novex-1	6244	18955;18956;18957	chr2:178621168;178621167;178621166	chr2:179485895;179485894;179485893
Novex-2	6311	19156;19157;19158	chr2:178621168;178621167;178621166	chr2:179485895;179485894;179485893
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-103
• Domain position: 65
• Structural Position: 148
• Q(SASA): 0.6866
• 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/E	rs374605722	None	0.002	N	0.117	0.08	0.119812018005	gnomAD-4.0.0	1.59363E-06	None	None	None	None	N	None	5.67279E-05	0	None	0	0	None	0	0	0	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	0.1546	likely_benign	0.1407	benign	-0.14	Destabilizing	0.329	N	0.179	neutral	None	None	None	None	N
Q/C	0.7385	likely_pathogenic	0.7138	pathogenic	0.151	Stabilizing	0.995	D	0.203	neutral	None	None	None	None	N
Q/D	0.2516	likely_benign	0.2521	benign	0.029	Stabilizing	0.003	N	0.111	neutral	None	None	None	None	N
Q/E	0.0681	likely_benign	0.0706	benign	-0.022	Destabilizing	0.002	N	0.117	neutral	N	0.342477643	None	None	N
Q/F	0.74	likely_pathogenic	0.7225	pathogenic	-0.503	Destabilizing	0.981	D	0.219	neutral	None	None	None	None	N
Q/G	0.1985	likely_benign	0.1886	benign	-0.272	Destabilizing	0.001	N	0.084	neutral	None	None	None	None	N
Q/H	0.2074	likely_benign	0.2159	benign	-0.179	Destabilizing	0.927	D	0.213	neutral	N	0.444048875	None	None	N
Q/I	0.4639	ambiguous	0.4548	ambiguous	0.108	Stabilizing	0.944	D	0.271	neutral	None	None	None	None	N
Q/K	0.0823	likely_benign	0.0863	benign	0.135	Stabilizing	0.01	N	0.081	neutral	N	0.381000381	None	None	N
Q/L	0.1487	likely_benign	0.1441	benign	0.108	Stabilizing	0.642	D	0.269	neutral	N	0.435714317	None	None	N
Q/M	0.4076	ambiguous	0.3802	ambiguous	0.315	Stabilizing	0.981	D	0.245	neutral	None	None	None	None	N
Q/N	0.2269	likely_benign	0.2292	benign	-0.137	Destabilizing	0.329	N	0.115	neutral	None	None	None	None	N
Q/P	0.1584	likely_benign	0.1517	benign	0.05	Stabilizing	0.784	D	0.307	neutral	N	0.450447973	None	None	N
Q/R	0.1126	likely_benign	0.1121	benign	0.281	Stabilizing	0.27	N	0.129	neutral	N	0.435425746	None	None	N
Q/S	0.1971	likely_benign	0.1772	benign	-0.13	Destabilizing	0.495	N	0.152	neutral	None	None	None	None	N
Q/T	0.1952	likely_benign	0.1782	benign	-0.042	Destabilizing	0.704	D	0.231	neutral	None	None	None	None	N
Q/V	0.3141	likely_benign	0.2982	benign	0.05	Stabilizing	0.828	D	0.273	neutral	None	None	None	None	N
Q/W	0.5787	likely_pathogenic	0.6002	pathogenic	-0.538	Destabilizing	0.995	D	0.206	neutral	None	None	None	None	N
Q/Y	0.5161	ambiguous	0.516	ambiguous	-0.254	Destabilizing	0.981	D	0.221	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.