TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4906	14941;14942;14943	chr2:178735730;178735729;178735728	chr2:179600457;179600456;179600455
N2AB	4589	13990;13991;13992	chr2:178735730;178735729;178735728	chr2:179600457;179600456;179600455
N2A	3662	11209;11210;11211	chr2:178735730;178735729;178735728	chr2:179600457;179600456;179600455
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAC
• RefSeq wild type template codon: GTG
• Domain: Ig-32
• Domain position: 19
• Structural Position: 29
• Q(SASA): 0.4415
• 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/L	rs2081328374	None	0.117	N	0.545	0.142	0.148003135375	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	0	6.55E-05	0	0	0	None	0	0	0	0	0
H/L	rs2081328374	None	0.117	N	0.545	0.142	0.148003135375	gnomAD-4.0.0	6.57013E-06	None	None	None	None	N	None	0	6.54793E-05	None	0	0	None	0	0	0	0	0
H/Q	rs192727802	-0.062	0.062	N	0.468	0.05	0.152612264143	1000 genomes	1.99681E-04	None	None	None	None	N	None	0	0	None	None	1E-03	0	None	None	None	0	None

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	0.1592	likely_benign	0.1721	benign	-0.326	Destabilizing	0.067	N	0.502	neutral	None	None	None	None	N
H/C	0.0916	likely_benign	0.0878	benign	0.374	Stabilizing	0.935	D	0.571	neutral	None	None	None	None	N
H/D	0.172	likely_benign	0.1918	benign	-0.387	Destabilizing	0.117	N	0.519	neutral	N	0.449112464	None	None	N
H/E	0.188	likely_benign	0.2077	benign	-0.303	Destabilizing	0.035	N	0.511	neutral	None	None	None	None	N
H/F	0.1763	likely_benign	0.1814	benign	0.828	Stabilizing	0.555	D	0.593	neutral	None	None	None	None	N
H/G	0.1858	likely_benign	0.2063	benign	-0.688	Destabilizing	0.149	N	0.544	neutral	None	None	None	None	N
H/I	0.1376	likely_benign	0.1448	benign	0.655	Stabilizing	0.555	D	0.593	neutral	None	None	None	None	N
H/K	0.1495	likely_benign	0.149	benign	-0.331	Destabilizing	0.035	N	0.453	neutral	None	None	None	None	N
H/L	0.073	likely_benign	0.076	benign	0.655	Stabilizing	0.117	N	0.545	neutral	N	0.43331929	None	None	N
H/M	0.3024	likely_benign	0.3114	benign	0.427	Stabilizing	0.791	D	0.58	neutral	None	None	None	None	N
H/N	0.0941	likely_benign	0.1003	benign	-0.405	Destabilizing	0.117	N	0.511	neutral	N	0.448654817	None	None	N
H/P	0.2079	likely_benign	0.2522	benign	0.351	Stabilizing	0.484	N	0.597	neutral	D	0.535592442	None	None	N
H/Q	0.1011	likely_benign	0.1031	benign	-0.169	Destabilizing	0.062	N	0.468	neutral	N	0.442146171	None	None	N
H/R	0.0588	likely_benign	0.0569	benign	-1.009	Destabilizing	None	N	0.296	neutral	N	0.431727021	None	None	N
H/S	0.1422	likely_benign	0.1508	benign	-0.316	Destabilizing	0.149	N	0.509	neutral	None	None	None	None	N
H/T	0.1362	likely_benign	0.1408	benign	-0.125	Destabilizing	0.149	N	0.54	neutral	None	None	None	None	N
H/V	0.1279	likely_benign	0.1314	benign	0.351	Stabilizing	0.149	N	0.572	neutral	None	None	None	None	N
H/W	0.2127	likely_benign	0.206	benign	1.027	Stabilizing	0.935	D	0.586	neutral	None	None	None	None	N
H/Y	0.0753	likely_benign	0.0779	benign	1.145	Stabilizing	0.211	N	0.497	neutral	N	0.448540517	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.