TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23817	71674;71675;71676	chr2:178574683;178574682;178574681	chr2:179439410;179439409;179439408
N2AB	22176	66751;66752;66753	chr2:178574683;178574682;178574681	chr2:179439410;179439409;179439408
N2A	21249	63970;63971;63972	chr2:178574683;178574682;178574681	chr2:179439410;179439409;179439408
N2B	14752	44479;44480;44481	chr2:178574683;178574682;178574681	chr2:179439410;179439409;179439408
Novex-1	14877	44854;44855;44856	chr2:178574683;178574682;178574681	chr2:179439410;179439409;179439408
Novex-2	14944	45055;45056;45057	chr2:178574683;178574682;178574681	chr2:179439410;179439409;179439408
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: C
• RefSeq wild type transcript codon: TGC
• RefSeq wild type template codon: ACG
• Domain: Fn3-60
• Domain position: 92
• Structural Position: 126
• Q(SASA): 0.2831
• 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
C/Y	None	None	None	N	0.205	0.134	0.47432691512	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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
C/A	0.095	likely_benign	0.0779	benign	-1.138	Destabilizing	None	N	0.09	neutral	None	None	None	None	N
C/D	0.2891	likely_benign	0.2379	benign	0.357	Stabilizing	None	N	0.231	neutral	None	None	None	None	N
C/E	0.4103	ambiguous	0.3617	ambiguous	0.385	Stabilizing	None	N	0.231	neutral	None	None	None	None	N
C/F	0.1369	likely_benign	0.1455	benign	-0.775	Destabilizing	None	N	0.203	neutral	N	0.463276093	None	None	N
C/G	0.0772	likely_benign	0.0703	benign	-1.361	Destabilizing	None	N	0.229	neutral	N	0.434166694	None	None	N
C/H	0.2078	likely_benign	0.213	benign	-1.224	Destabilizing	None	N	0.266	neutral	None	None	None	None	N
C/I	0.2572	likely_benign	0.2322	benign	-0.61	Destabilizing	None	N	0.176	neutral	None	None	None	None	N
C/K	0.3819	ambiguous	0.3583	ambiguous	-0.289	Destabilizing	None	N	0.231	neutral	None	None	None	None	N
C/L	0.2277	likely_benign	0.2059	benign	-0.61	Destabilizing	None	N	0.152	neutral	None	None	None	None	N
C/M	0.3388	likely_benign	0.3033	benign	-0.031	Destabilizing	0.001	N	0.215	neutral	None	None	None	None	N
C/N	0.1235	likely_benign	0.1083	benign	-0.113	Destabilizing	None	N	0.227	neutral	None	None	None	None	N
C/P	0.1173	likely_benign	0.0898	benign	-0.76	Destabilizing	None	N	0.227	neutral	None	None	None	None	N
C/Q	0.293	likely_benign	0.2757	benign	-0.153	Destabilizing	None	N	0.245	neutral	None	None	None	None	N
C/R	0.207	likely_benign	0.209	benign	-0.001	Destabilizing	None	N	0.245	neutral	N	0.425835213	None	None	N
C/S	0.0741	likely_benign	0.0653	benign	-0.66	Destabilizing	None	N	0.149	neutral	N	0.361669091	None	None	N
C/T	0.1378	likely_benign	0.1144	benign	-0.471	Destabilizing	None	N	0.15	neutral	None	None	None	None	N
C/V	0.1981	likely_benign	0.1799	benign	-0.76	Destabilizing	None	N	0.155	neutral	None	None	None	None	N
C/W	0.3844	ambiguous	0.4057	ambiguous	-0.701	Destabilizing	0.004	N	0.481	neutral	N	0.463276093	None	None	N
C/Y	0.147	likely_benign	0.1638	benign	-0.649	Destabilizing	None	N	0.205	neutral	N	0.444516974	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.