TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14238	42937;42938;42939	chr2:178633647;178633646;178633645	chr2:179498374;179498373;179498372
N2AB	12597	38014;38015;38016	chr2:178633647;178633646;178633645	chr2:179498374;179498373;179498372
N2A	11670	35233;35234;35235	chr2:178633647;178633646;178633645	chr2:179498374;179498373;179498372
N2B	5173	15742;15743;15744	chr2:178633647;178633646;178633645	chr2:179498374;179498373;179498372
Novex-1	5298	16117;16118;16119	chr2:178633647;178633646;178633645	chr2:179498374;179498373;179498372
Novex-2	5365	16318;16319;16320	chr2:178633647;178633646;178633645	chr2:179498374;179498373;179498372
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Ig-93
• Domain position: 8
• Structural Position: 9
• Q(SASA): 0.7212
• 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
H/Q	rs1438979717	None	None	N	0.093	0.122	0.130388298395	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
H/Q	rs1438979717	None	None	N	0.093	0.122	0.130388298395	gnomAD-4.0.0	2.73843E-06	None	None	None	None	N	None	0	4.47948E-05	None	0	0	None	0	0	1.79942E-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
H/A	0.1641	likely_benign	0.1921	benign	0.417	Stabilizing	0.048	N	0.246	neutral	None	None	None	None	N
H/C	0.2206	likely_benign	0.1978	benign	0.64	Stabilizing	0.958	D	0.237	neutral	None	None	None	None	N
H/D	0.1702	likely_benign	0.1853	benign	-0.12	Destabilizing	0.081	N	0.262	neutral	N	0.417729981	None	None	N
H/E	0.1659	likely_benign	0.2035	benign	-0.116	Destabilizing	0.025	N	0.135	neutral	None	None	None	None	N
H/F	0.2993	likely_benign	0.2697	benign	0.932	Stabilizing	0.667	D	0.337	neutral	None	None	None	None	N
H/G	0.1992	likely_benign	0.2243	benign	0.187	Stabilizing	0.104	N	0.261	neutral	None	None	None	None	N
H/I	0.2638	likely_benign	0.2553	benign	0.986	Stabilizing	0.364	N	0.343	neutral	None	None	None	None	N
H/K	0.156	likely_benign	0.1916	benign	0.327	Stabilizing	0.025	N	0.201	neutral	None	None	None	None	N
H/L	0.1108	likely_benign	0.1056	benign	0.986	Stabilizing	0.081	N	0.284	neutral	N	0.478388083	None	None	N
H/M	0.3327	likely_benign	0.3804	ambiguous	0.694	Stabilizing	0.667	D	0.262	neutral	None	None	None	None	N
H/N	0.0858	likely_benign	0.0822	benign	0.256	Stabilizing	0.081	N	0.226	neutral	N	0.459876114	None	None	N
H/P	0.1668	likely_benign	0.1515	benign	0.821	Stabilizing	0.301	N	0.325	neutral	N	0.475629951	None	None	N
H/Q	0.1076	likely_benign	0.1271	benign	0.313	Stabilizing	None	N	0.093	neutral	N	0.308157083	None	None	N
H/R	0.0901	likely_benign	0.0973	benign	-0.159	Destabilizing	None	N	0.129	neutral	N	0.402393442	None	None	N
H/S	0.1526	likely_benign	0.1637	benign	0.376	Stabilizing	0.104	N	0.258	neutral	None	None	None	None	N
H/T	0.1661	likely_benign	0.1893	benign	0.472	Stabilizing	0.104	N	0.271	neutral	None	None	None	None	N
H/V	0.1926	likely_benign	0.2082	benign	0.821	Stabilizing	0.22	N	0.335	neutral	None	None	None	None	N
H/W	0.336	likely_benign	0.363	ambiguous	0.838	Stabilizing	0.958	D	0.246	neutral	None	None	None	None	N
H/Y	0.1109	likely_benign	0.0975	benign	1.124	Stabilizing	0.301	N	0.263	neutral	N	0.485408281	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.