TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22951	69076;69077;69078	chr2:178577484;178577483;178577482	chr2:179442211;179442210;179442209
N2AB	21310	64153;64154;64155	chr2:178577484;178577483;178577482	chr2:179442211;179442210;179442209
N2A	20383	61372;61373;61374	chr2:178577484;178577483;178577482	chr2:179442211;179442210;179442209
N2B	13886	41881;41882;41883	chr2:178577484;178577483;178577482	chr2:179442211;179442210;179442209
Novex-1	14011	42256;42257;42258	chr2:178577484;178577483;178577482	chr2:179442211;179442210;179442209
Novex-2	14078	42457;42458;42459	chr2:178577484;178577483;178577482	chr2:179442211;179442210;179442209
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-128
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.6958
• 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/I	None	None	0.096	N	0.432	0.129	0.26547132957	gnomAD-4.0.0	1.20033E-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	0.056	likely_benign	0.0541	benign	-0.101	Destabilizing	None	N	0.171	neutral	N	0.442394681	None	None	N
T/C	0.371	ambiguous	0.3044	benign	-0.474	Destabilizing	0.883	D	0.361	neutral	None	None	None	None	N
T/D	0.2464	likely_benign	0.2038	benign	-0.01	Destabilizing	0.001	N	0.209	neutral	None	None	None	None	N
T/E	0.1866	likely_benign	0.1638	benign	-0.092	Destabilizing	0.002	N	0.159	neutral	None	None	None	None	N
T/F	0.2314	likely_benign	0.1887	benign	-0.768	Destabilizing	0.497	N	0.398	neutral	None	None	None	None	N
T/G	0.1514	likely_benign	0.1388	benign	-0.159	Destabilizing	None	N	0.187	neutral	None	None	None	None	N
T/H	0.1799	likely_benign	0.1602	benign	-0.223	Destabilizing	0.667	D	0.365	neutral	None	None	None	None	N
T/I	0.1619	likely_benign	0.1275	benign	-0.069	Destabilizing	0.096	N	0.432	neutral	N	0.5060808	None	None	N
T/K	0.1169	likely_benign	0.1123	benign	-0.286	Destabilizing	0.001	N	0.203	neutral	N	0.40839675	None	None	N
T/L	0.0889	likely_benign	0.081	benign	-0.069	Destabilizing	0.02	N	0.372	neutral	None	None	None	None	N
T/M	0.0881	likely_benign	0.0806	benign	-0.27	Destabilizing	0.009	N	0.262	neutral	None	None	None	None	N
T/N	0.085	likely_benign	0.0798	benign	-0.149	Destabilizing	0.22	N	0.255	neutral	None	None	None	None	N
T/P	0.3048	likely_benign	0.2209	benign	-0.056	Destabilizing	0.301	N	0.433	neutral	N	0.5060808	None	None	N
T/Q	0.1368	likely_benign	0.1346	benign	-0.322	Destabilizing	0.011	N	0.202	neutral	None	None	None	None	N
T/R	0.1132	likely_benign	0.1074	benign	0.029	Stabilizing	0.096	N	0.39	neutral	N	0.438239654	None	None	N
T/S	0.0747	likely_benign	0.0709	benign	-0.301	Destabilizing	0.042	N	0.228	neutral	N	0.4611538	None	None	N
T/V	0.1225	likely_benign	0.1009	benign	-0.056	Destabilizing	0.055	N	0.258	neutral	None	None	None	None	N
T/W	0.5676	likely_pathogenic	0.5023	ambiguous	-0.887	Destabilizing	0.958	D	0.339	neutral	None	None	None	None	N
T/Y	0.2421	likely_benign	0.2068	benign	-0.55	Destabilizing	0.667	D	0.381	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.