TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28001	84226;84227;84228	chr2:178562131;178562130;178562129	chr2:179426858;179426857;179426856
N2AB	26360	79303;79304;79305	chr2:178562131;178562130;178562129	chr2:179426858;179426857;179426856
N2A	25433	76522;76523;76524	chr2:178562131;178562130;178562129	chr2:179426858;179426857;179426856
N2B	18936	57031;57032;57033	chr2:178562131;178562130;178562129	chr2:179426858;179426857;179426856
Novex-1	19061	57406;57407;57408	chr2:178562131;178562130;178562129	chr2:179426858;179426857;179426856
Novex-2	19128	57607;57608;57609	chr2:178562131;178562130;178562129	chr2:179426858;179426857;179426856
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-142
• Domain position: 39
• Structural Position: 55
• Q(SASA): 0.4164
• 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
Q/K	None	None	0.042	N	0.223	0.106	0.239901079897	gnomAD-4.0.0	1.59282E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43414E-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
Q/A	0.1858	likely_benign	0.163	benign	-0.189	Destabilizing	0.055	N	0.337	neutral	None	None	None	None	N
Q/C	0.4039	ambiguous	0.378	ambiguous	0.222	Stabilizing	0.958	D	0.361	neutral	None	None	None	None	N
Q/D	0.3062	likely_benign	0.2745	benign	-0.037	Destabilizing	0.055	N	0.189	neutral	None	None	None	None	N
Q/E	0.0839	likely_benign	0.0815	benign	-0.08	Destabilizing	0.001	N	0.185	neutral	N	0.501061769	None	None	N
Q/F	0.4913	ambiguous	0.4434	ambiguous	-0.443	Destabilizing	0.331	N	0.443	neutral	None	None	None	None	N
Q/G	0.2636	likely_benign	0.243	benign	-0.357	Destabilizing	0.124	N	0.366	neutral	None	None	None	None	N
Q/H	0.1534	likely_benign	0.1427	benign	-0.285	Destabilizing	0.001	N	0.185	neutral	N	0.512916345	None	None	N
Q/I	0.199	likely_benign	0.1757	benign	0.163	Stabilizing	0.001	N	0.281	neutral	None	None	None	None	N
Q/K	0.0835	likely_benign	0.0793	benign	0.083	Stabilizing	0.042	N	0.223	neutral	N	0.48930598	None	None	N
Q/L	0.1028	likely_benign	0.0941	benign	0.163	Stabilizing	0.001	N	0.229	neutral	D	0.527019006	None	None	N
Q/M	0.2266	likely_benign	0.1998	benign	0.441	Stabilizing	0.497	N	0.235	neutral	None	None	None	None	N
Q/N	0.1968	likely_benign	0.1826	benign	-0.172	Destabilizing	0.001	N	0.185	neutral	None	None	None	None	N
Q/P	0.5162	ambiguous	0.5195	ambiguous	0.073	Stabilizing	0.301	N	0.415	neutral	N	0.510891064	None	None	N
Q/R	0.0989	likely_benign	0.0981	benign	0.251	Stabilizing	0.175	N	0.225	neutral	N	0.493194434	None	None	N
Q/S	0.1985	likely_benign	0.1905	benign	-0.174	Destabilizing	0.055	N	0.213	neutral	None	None	None	None	N
Q/T	0.1656	likely_benign	0.1527	benign	-0.071	Destabilizing	0.001	N	0.193	neutral	None	None	None	None	N
Q/V	0.1377	likely_benign	0.1253	benign	0.073	Stabilizing	0.055	N	0.341	neutral	None	None	None	None	N
Q/W	0.4739	ambiguous	0.4472	ambiguous	-0.436	Destabilizing	0.958	D	0.361	neutral	None	None	None	None	N
Q/Y	0.3232	likely_benign	0.2971	benign	-0.177	Destabilizing	0.331	N	0.393	neutral	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.