TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18728	56407;56408;56409	chr2:178599719;178599718;178599717	chr2:179464446;179464445;179464444
N2AB	17087	51484;51485;51486	chr2:178599719;178599718;178599717	chr2:179464446;179464445;179464444
N2A	16160	48703;48704;48705	chr2:178599719;178599718;178599717	chr2:179464446;179464445;179464444
N2B	9663	29212;29213;29214	chr2:178599719;178599718;178599717	chr2:179464446;179464445;179464444
Novex-1	9788	29587;29588;29589	chr2:178599719;178599718;178599717	chr2:179464446;179464445;179464444
Novex-2	9855	29788;29789;29790	chr2:178599719;178599718;178599717	chr2:179464446;179464445;179464444
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-116
• Domain position: 41
• Structural Position: 73
• Q(SASA): 0.9714
• 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
N/D	None	None	None	N	0.116	0.089	0.181679512989	gnomAD-4.0.0	4.10717E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	1.73732E-04	4.49892E-06	0	0
N/K	rs2052768843	None	None	N	0.116	0.079	0.0762999501168	gnomAD-4.0.0	6.84544E-07	None	None	None	None	N	None	2.99204E-05	0	None	0	0	None	0	0	0	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
N/A	0.1098	likely_benign	0.0916	benign	-0.409	Destabilizing	None	N	0.159	neutral	None	None	None	None	N
N/C	0.1347	likely_benign	0.1383	benign	0.41	Stabilizing	0.55	D	0.213	neutral	None	None	None	None	N
N/D	0.0738	likely_benign	0.0646	benign	-0.161	Destabilizing	None	N	0.116	neutral	N	0.435062411	None	None	N
N/E	0.1512	likely_benign	0.1072	benign	-0.16	Destabilizing	None	N	0.117	neutral	None	None	None	None	N
N/F	0.2772	likely_benign	0.2518	benign	-0.504	Destabilizing	0.245	N	0.275	neutral	None	None	None	None	N
N/G	0.1602	likely_benign	0.1443	benign	-0.65	Destabilizing	0.004	N	0.201	neutral	None	None	None	None	N
N/H	0.0864	likely_benign	0.079	benign	-0.708	Destabilizing	0.196	N	0.194	neutral	N	0.462555422	None	None	N
N/I	0.1002	likely_benign	0.0905	benign	0.161	Stabilizing	0.033	N	0.322	neutral	N	0.513699339	None	None	N
N/K	0.1387	likely_benign	0.1003	benign	-0.16	Destabilizing	None	N	0.116	neutral	N	0.500922043	None	None	N
N/L	0.1251	likely_benign	0.1115	benign	0.161	Stabilizing	0.018	N	0.264	neutral	None	None	None	None	N
N/M	0.1826	likely_benign	0.1581	benign	0.565	Stabilizing	0.497	N	0.241	neutral	None	None	None	None	N
N/P	0.4224	ambiguous	0.3954	ambiguous	None	Stabilizing	0.044	N	0.373	neutral	None	None	None	None	N
N/Q	0.1561	likely_benign	0.1205	benign	-0.489	Destabilizing	0.009	N	0.227	neutral	None	None	None	None	N
N/R	0.1687	likely_benign	0.1267	benign	-0.165	Destabilizing	0.009	N	0.226	neutral	None	None	None	None	N
N/S	0.0643	likely_benign	0.0641	benign	-0.306	Destabilizing	None	N	0.157	neutral	N	0.487011383	None	None	N
N/T	0.0753	likely_benign	0.07	benign	-0.159	Destabilizing	0.007	N	0.203	neutral	N	0.478989333	None	None	N
N/V	0.1033	likely_benign	0.0887	benign	None	Stabilizing	0.009	N	0.283	neutral	None	None	None	None	N
N/W	0.5246	ambiguous	0.4542	ambiguous	-0.434	Destabilizing	0.788	D	0.22	neutral	None	None	None	None	N
N/Y	0.1048	likely_benign	0.0989	benign	-0.217	Destabilizing	0.196	N	0.291	neutral	N	0.513525981	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.