TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14623	44092;44093;44094	chr2:178631181;178631180;178631179	chr2:179495908;179495907;179495906
N2AB	12982	39169;39170;39171	chr2:178631181;178631180;178631179	chr2:179495908;179495907;179495906
N2A	12055	36388;36389;36390	chr2:178631181;178631180;178631179	chr2:179495908;179495907;179495906
N2B	5558	16897;16898;16899	chr2:178631181;178631180;178631179	chr2:179495908;179495907;179495906
Novex-1	5683	17272;17273;17274	chr2:178631181;178631180;178631179	chr2:179495908;179495907;179495906
Novex-2	5750	17473;17474;17475	chr2:178631181;178631180;178631179	chr2:179495908;179495907;179495906
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: K
• RefSeq wild type transcript codon: AAG
• RefSeq wild type template codon: TTC
• Domain: Ig-97
• Domain position: 38
• Structural Position: 55
• Q(SASA): 0.3973
• 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
K/R	None	None	0.012	N	0.281	0.123	0.482429249588	gnomAD-4.0.0	1.59244E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85958E-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
K/A	0.1648	likely_benign	0.1427	benign	-0.028	Destabilizing	0.016	N	0.303	neutral	None	None	None	None	N
K/C	0.6137	likely_pathogenic	0.5642	pathogenic	-0.386	Destabilizing	0.864	D	0.359	neutral	None	None	None	None	N
K/D	0.2743	likely_benign	0.2322	benign	-0.03	Destabilizing	0.016	N	0.329	neutral	None	None	None	None	N
K/E	0.0618	likely_benign	0.0567	benign	-0.003	Destabilizing	None	N	0.122	neutral	N	0.442620588	None	None	N
K/F	0.5927	likely_pathogenic	0.5133	ambiguous	-0.161	Destabilizing	0.356	N	0.404	neutral	None	None	None	None	N
K/G	0.2738	likely_benign	0.2209	benign	-0.242	Destabilizing	0.031	N	0.342	neutral	None	None	None	None	N
K/H	0.2594	likely_benign	0.2346	benign	-0.406	Destabilizing	0.214	N	0.337	neutral	None	None	None	None	N
K/I	0.1663	likely_benign	0.1392	benign	0.461	Stabilizing	0.038	N	0.453	neutral	None	None	None	None	N
K/L	0.1907	likely_benign	0.1677	benign	0.461	Stabilizing	0.016	N	0.372	neutral	None	None	None	None	N
K/M	0.136	likely_benign	0.1219	benign	0.056	Stabilizing	0.295	N	0.337	neutral	D	0.560571957	None	None	N
K/N	0.1562	likely_benign	0.1313	benign	-0.036	Destabilizing	None	N	0.129	neutral	N	0.509339276	None	None	N
K/P	0.7739	likely_pathogenic	0.7728	pathogenic	0.326	Stabilizing	0.136	N	0.421	neutral	None	None	None	None	N
K/Q	0.0823	likely_benign	0.0782	benign	-0.132	Destabilizing	None	N	0.181	neutral	N	0.470095542	None	None	N
K/R	0.1018	likely_benign	0.0938	benign	-0.148	Destabilizing	0.012	N	0.281	neutral	N	0.515150839	None	None	N
K/S	0.1982	likely_benign	0.1644	benign	-0.475	Destabilizing	0.016	N	0.207	neutral	None	None	None	None	N
K/T	0.1015	likely_benign	0.0897	benign	-0.294	Destabilizing	0.024	N	0.372	neutral	N	0.514897126	None	None	N
K/V	0.1415	likely_benign	0.1222	benign	0.326	Stabilizing	0.001	N	0.21	neutral	None	None	None	None	N
K/W	0.7026	likely_pathogenic	0.6521	pathogenic	-0.212	Destabilizing	0.864	D	0.365	neutral	None	None	None	None	N
K/Y	0.4844	ambiguous	0.424	ambiguous	0.13	Stabilizing	0.356	N	0.422	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.