TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20417	61474;61475;61476	chr2:178590476;178590475;178590474	chr2:179455203;179455202;179455201
N2AB	18776	56551;56552;56553	chr2:178590476;178590475;178590474	chr2:179455203;179455202;179455201
N2A	17849	53770;53771;53772	chr2:178590476;178590475;178590474	chr2:179455203;179455202;179455201
N2B	11352	34279;34280;34281	chr2:178590476;178590475;178590474	chr2:179455203;179455202;179455201
Novex-1	11477	34654;34655;34656	chr2:178590476;178590475;178590474	chr2:179455203;179455202;179455201
Novex-2	11544	34855;34856;34857	chr2:178590476;178590475;178590474	chr2:179455203;179455202;179455201
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Fn3-36
• Domain position: 47
• Structural Position: 64
• Q(SASA): 0.7031
• 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	0.001	N	0.131	0.12	0.0920862733494	gnomAD-4.0.0	1.59263E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86069E-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
Q/A	0.1293	likely_benign	0.14	benign	-0.302	Destabilizing	0.129	N	0.346	neutral	None	None	None	None	N
Q/C	0.5532	ambiguous	0.6405	pathogenic	0.215	Stabilizing	0.983	D	0.281	neutral	None	None	None	None	N
Q/D	0.2127	likely_benign	0.2209	benign	0.038	Stabilizing	0.001	N	0.123	neutral	None	None	None	None	N
Q/E	0.065	likely_benign	0.0642	benign	0.024	Stabilizing	0.001	N	0.119	neutral	N	0.372427589	None	None	N
Q/F	0.5313	ambiguous	0.607	pathogenic	-0.419	Destabilizing	0.94	D	0.28	neutral	None	None	None	None	N
Q/G	0.2072	likely_benign	0.2234	benign	-0.516	Destabilizing	0.228	N	0.305	neutral	None	None	None	None	N
Q/H	0.1748	likely_benign	0.2122	benign	-0.353	Destabilizing	0.794	D	0.271	neutral	N	0.46732205	None	None	N
Q/I	0.2228	likely_benign	0.2581	benign	0.182	Stabilizing	0.836	D	0.309	neutral	None	None	None	None	N
Q/K	0.0901	likely_benign	0.0945	benign	-0.003	Destabilizing	0.001	N	0.131	neutral	N	0.409543183	None	None	N
Q/L	0.0954	likely_benign	0.1108	benign	0.182	Stabilizing	0.351	N	0.317	neutral	N	0.460337362	None	None	N
Q/M	0.2589	likely_benign	0.2983	benign	0.431	Stabilizing	0.94	D	0.281	neutral	None	None	None	None	N
Q/N	0.1867	likely_benign	0.2022	benign	-0.271	Destabilizing	0.418	N	0.263	neutral	None	None	None	None	N
Q/P	0.1866	likely_benign	0.1924	benign	0.049	Stabilizing	0.523	D	0.297	neutral	N	0.489236117	None	None	N
Q/R	0.1087	likely_benign	0.1183	benign	0.172	Stabilizing	0.213	N	0.302	neutral	N	0.438441937	None	None	N
Q/S	0.1544	likely_benign	0.1617	benign	-0.303	Destabilizing	0.129	N	0.323	neutral	None	None	None	None	N
Q/T	0.1221	likely_benign	0.1327	benign	-0.156	Destabilizing	0.418	N	0.313	neutral	None	None	None	None	N
Q/V	0.1356	likely_benign	0.158	benign	0.049	Stabilizing	0.418	N	0.308	neutral	None	None	None	None	N
Q/W	0.4879	ambiguous	0.5675	pathogenic	-0.383	Destabilizing	0.983	D	0.303	neutral	None	None	None	None	N
Q/Y	0.3715	ambiguous	0.4357	ambiguous	-0.147	Destabilizing	0.94	D	0.279	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.