TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6053	18382;18383;18384	chr2:178730243;178730242;178730241	chr2:179594970;179594969;179594968
N2AB	5736	17431;17432;17433	chr2:178730243;178730242;178730241	chr2:179594970;179594969;179594968
N2A	4809	14650;14651;14652	chr2:178730243;178730242;178730241	chr2:179594970;179594969;179594968
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-44
• Domain position: 42
• Structural Position: 59
• Q(SASA): 0.6519
• 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/N	None	None	0.302	N	0.265	0.142	0.272205846399	gnomAD-4.0.0	6.84406E-07	None	None	None	None	N	None	0	2.23924E-05	None	0	0	None	0	0	0	0	0
H/Q	None	None	0.68	N	0.272	0.111	0.202949470691	gnomAD-4.0.0	4.10632E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.39751E-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	0.1413	likely_benign	0.1578	benign	0.28	Stabilizing	0.051	N	0.213	neutral	None	None	None	None	N
H/C	0.1517	likely_benign	0.142	benign	0.471	Stabilizing	0.968	D	0.381	neutral	None	None	None	None	N
H/D	0.1621	likely_benign	0.1901	benign	-0.161	Destabilizing	0.302	N	0.344	neutral	N	0.426641368	None	None	N
H/E	0.1743	likely_benign	0.2009	benign	-0.154	Destabilizing	0.365	N	0.191	neutral	None	None	None	None	N
H/F	0.1778	likely_benign	0.1883	benign	0.838	Stabilizing	0.365	N	0.383	neutral	None	None	None	None	N
H/G	0.1849	likely_benign	0.2036	benign	0.049	Stabilizing	0.365	N	0.289	neutral	None	None	None	None	N
H/I	0.1346	likely_benign	0.1341	benign	0.85	Stabilizing	0.001	N	0.151	neutral	None	None	None	None	N
H/K	0.1441	likely_benign	0.1508	benign	0.182	Stabilizing	0.365	N	0.284	neutral	None	None	None	None	N
H/L	0.0602	likely_benign	0.0637	benign	0.85	Stabilizing	None	N	0.153	neutral	N	0.403649865	None	None	N
H/M	0.2726	likely_benign	0.283	benign	0.551	Stabilizing	0.582	D	0.428	neutral	None	None	None	None	N
H/N	0.0824	likely_benign	0.0864	benign	0.077	Stabilizing	0.302	N	0.265	neutral	N	0.441877392	None	None	N
H/P	0.0897	likely_benign	0.1055	benign	0.683	Stabilizing	0.68	D	0.437	neutral	N	0.375905903	None	None	N
H/Q	0.0951	likely_benign	0.1003	benign	0.146	Stabilizing	0.68	D	0.272	neutral	N	0.433316624	None	None	N
H/R	0.0679	likely_benign	0.0678	benign	-0.275	Destabilizing	0.68	D	0.26	neutral	N	0.430641679	None	None	N
H/S	0.1295	likely_benign	0.1417	benign	0.17	Stabilizing	0.022	N	0.123	neutral	None	None	None	None	N
H/T	0.1438	likely_benign	0.152	benign	0.272	Stabilizing	0.003	N	0.113	neutral	None	None	None	None	N
H/V	0.1084	likely_benign	0.1092	benign	0.683	Stabilizing	0.003	N	0.15	neutral	None	None	None	None	N
H/W	0.2592	likely_benign	0.2821	benign	0.772	Stabilizing	0.991	D	0.345	neutral	None	None	None	None	N
H/Y	0.0749	likely_benign	0.0783	benign	1.027	Stabilizing	0.68	D	0.306	neutral	N	0.49090349	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.