TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32097	96514;96515;96516	chr2:178543855;178543854;178543853	chr2:179408582;179408581;179408580
N2AB	30456	91591;91592;91593	chr2:178543855;178543854;178543853	chr2:179408582;179408581;179408580
N2A	29529	88810;88811;88812	chr2:178543855;178543854;178543853	chr2:179408582;179408581;179408580
N2B	23032	69319;69320;69321	chr2:178543855;178543854;178543853	chr2:179408582;179408581;179408580
Novex-1	23157	69694;69695;69696	chr2:178543855;178543854;178543853	chr2:179408582;179408581;179408580
Novex-2	23224	69895;69896;69897	chr2:178543855;178543854;178543853	chr2:179408582;179408581;179408580
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-153
• Domain position: 81
• Structural Position: 171
• Q(SASA): 0.3325
• 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
T/I	rs1559126683	None	0.884	N	0.385	0.37	0.474643619859	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	6.07533E-05	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
T/A	0.0887	likely_benign	0.0876	benign	-0.434	Destabilizing	0.998	D	0.511	neutral	N	0.50435279	None	None	N
T/C	0.4483	ambiguous	0.4783	ambiguous	-0.29	Destabilizing	1.0	D	0.771	deleterious	None	None	None	None	N
T/D	0.5766	likely_pathogenic	0.552	ambiguous	0.236	Stabilizing	1.0	D	0.769	deleterious	None	None	None	None	N
T/E	0.5131	ambiguous	0.4894	ambiguous	0.173	Stabilizing	1.0	D	0.766	deleterious	None	None	None	None	N
T/F	0.2639	likely_benign	0.2783	benign	-0.843	Destabilizing	1.0	D	0.832	deleterious	None	None	None	None	N
T/G	0.2928	likely_benign	0.2912	benign	-0.591	Destabilizing	1.0	D	0.74	deleterious	None	None	None	None	N
T/H	0.303	likely_benign	0.3199	benign	-0.883	Destabilizing	1.0	D	0.828	deleterious	None	None	None	None	N
T/I	0.2174	likely_benign	0.2124	benign	-0.137	Destabilizing	0.884	D	0.385	neutral	N	0.495393702	None	None	N
T/K	0.4179	ambiguous	0.3804	ambiguous	-0.399	Destabilizing	1.0	D	0.769	deleterious	N	0.490096875	None	None	N
T/L	0.1456	likely_benign	0.1435	benign	-0.137	Destabilizing	0.994	D	0.575	neutral	None	None	None	None	N
T/M	0.0975	likely_benign	0.0965	benign	0.043	Stabilizing	1.0	D	0.782	deleterious	None	None	None	None	N
T/N	0.1597	likely_benign	0.1595	benign	-0.2	Destabilizing	1.0	D	0.707	prob.neutral	None	None	None	None	N
T/P	0.3011	likely_benign	0.2657	benign	-0.206	Destabilizing	1.0	D	0.785	deleterious	N	0.506269481	None	None	N
T/Q	0.3093	likely_benign	0.3078	benign	-0.415	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	N
T/R	0.3449	ambiguous	0.31	benign	-0.142	Destabilizing	1.0	D	0.789	deleterious	N	0.495278343	None	None	N
T/S	0.1077	likely_benign	0.1102	benign	-0.446	Destabilizing	0.999	D	0.486	neutral	N	0.481147857	None	None	N
T/V	0.1349	likely_benign	0.1404	benign	-0.206	Destabilizing	0.985	D	0.512	neutral	None	None	None	None	N
T/W	0.6387	likely_pathogenic	0.6425	pathogenic	-0.825	Destabilizing	1.0	D	0.81	deleterious	None	None	None	None	N
T/Y	0.3122	likely_benign	0.3268	benign	-0.551	Destabilizing	1.0	D	0.835	deleterious	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.