TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14195	42808;42809;42810	chr2:178633916;178633915;178633914	chr2:179498643;179498642;179498641
N2AB	12554	37885;37886;37887	chr2:178633916;178633915;178633914	chr2:179498643;179498642;179498641
N2A	11627	35104;35105;35106	chr2:178633916;178633915;178633914	chr2:179498643;179498642;179498641
N2B	5130	15613;15614;15615	chr2:178633916;178633915;178633914	chr2:179498643;179498642;179498641
Novex-1	5255	15988;15989;15990	chr2:178633916;178633915;178633914	chr2:179498643;179498642;179498641
Novex-2	5322	16189;16190;16191	chr2:178633916;178633915;178633914	chr2:179498643;179498642;179498641
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-92
• Domain position: 54
• Structural Position: 135
• Q(SASA): 0.1833
• 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
T/A	None	None	0.005	N	0.373	0.143	0.202086224978	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
T/A	0.1017	likely_benign	0.0986	benign	-0.713	Destabilizing	0.005	N	0.373	neutral	N	0.498993076	None	None	N
T/C	0.3522	ambiguous	0.3701	ambiguous	-0.433	Destabilizing	0.628	D	0.537	neutral	None	None	None	None	N
T/D	0.4205	ambiguous	0.3975	ambiguous	-0.838	Destabilizing	0.072	N	0.544	neutral	None	None	None	None	N
T/E	0.2204	likely_benign	0.2344	benign	-0.824	Destabilizing	0.016	N	0.46	neutral	None	None	None	None	N
T/F	0.159	likely_benign	0.145	benign	-0.741	Destabilizing	0.038	N	0.614	neutral	None	None	None	None	N
T/G	0.321	likely_benign	0.3341	benign	-0.993	Destabilizing	0.031	N	0.476	neutral	None	None	None	None	N
T/H	0.1698	likely_benign	0.1919	benign	-1.383	Destabilizing	0.628	D	0.567	neutral	None	None	None	None	N
T/I	0.079	likely_benign	0.0777	benign	-0.053	Destabilizing	None	N	0.223	neutral	N	0.459648004	None	None	N
T/K	0.0961	likely_benign	0.1205	benign	-0.857	Destabilizing	None	N	0.199	neutral	None	None	None	None	N
T/L	0.079	likely_benign	0.0739	benign	-0.053	Destabilizing	None	N	0.193	neutral	None	None	None	None	N
T/M	0.0727	likely_benign	0.0726	benign	0.341	Stabilizing	0.214	N	0.564	neutral	None	None	None	None	N
T/N	0.1126	likely_benign	0.1116	benign	-0.881	Destabilizing	0.055	N	0.442	neutral	N	0.457475873	None	None	N
T/P	0.5497	ambiguous	0.5291	ambiguous	-0.24	Destabilizing	0.106	N	0.573	neutral	N	0.514744982	None	None	N
T/Q	0.14	likely_benign	0.1659	benign	-1.053	Destabilizing	0.072	N	0.55	neutral	None	None	None	None	N
T/R	0.0877	likely_benign	0.0993	benign	-0.637	Destabilizing	None	N	0.229	neutral	None	None	None	None	N
T/S	0.1221	likely_benign	0.1236	benign	-1.042	Destabilizing	0.024	N	0.415	neutral	N	0.470910689	None	None	N
T/V	0.0869	likely_benign	0.0922	benign	-0.24	Destabilizing	None	N	0.153	neutral	None	None	None	None	N
T/W	0.4396	ambiguous	0.4597	ambiguous	-0.742	Destabilizing	0.864	D	0.557	neutral	None	None	None	None	N
T/Y	0.1743	likely_benign	0.1882	benign	-0.49	Destabilizing	0.356	N	0.603	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.