TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32582	97969;97970;97971	chr2:178541333;178541332;178541331	chr2:179406060;179406059;179406058
N2AB	30941	93046;93047;93048	chr2:178541333;178541332;178541331	chr2:179406060;179406059;179406058
N2A	30014	90265;90266;90267	chr2:178541333;178541332;178541331	chr2:179406060;179406059;179406058
N2B	23517	70774;70775;70776	chr2:178541333;178541332;178541331	chr2:179406060;179406059;179406058
Novex-1	23642	71149;71150;71151	chr2:178541333;178541332;178541331	chr2:179406060;179406059;179406058
Novex-2	23709	71350;71351;71352	chr2:178541333;178541332;178541331	chr2:179406060;179406059;179406058
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Fn3-125
• Domain position: 84
• Structural Position: 117
• Q(SASA): 0.4105
• Predicted PPI site: I

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
S/F	None	None	0.065	N	0.626	0.039	0.332902724076	gnomAD-4.0.0	6.35478E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.29071E-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
S/A	0.0629	likely_benign	0.0628	benign	-0.466	Destabilizing	None	N	0.171	neutral	N	0.372102302	None	None	I
S/C	0.0758	likely_benign	0.0769	benign	-0.341	Destabilizing	0.196	N	0.539	neutral	N	0.474056021	None	None	I
S/D	0.3257	likely_benign	0.3056	benign	0.208	Stabilizing	None	N	0.193	neutral	None	None	None	None	I
S/E	0.2827	likely_benign	0.2895	benign	0.111	Stabilizing	0.004	N	0.285	neutral	None	None	None	None	I
S/F	0.1216	likely_benign	0.147	benign	-1.07	Destabilizing	0.065	N	0.626	neutral	N	0.451544521	None	None	I
S/G	0.0984	likely_benign	0.1008	benign	-0.564	Destabilizing	0.004	N	0.266	neutral	None	None	None	None	I
S/H	0.2149	likely_benign	0.2204	benign	-1.058	Destabilizing	0.497	N	0.542	neutral	None	None	None	None	I
S/I	0.0765	likely_benign	0.09	benign	-0.337	Destabilizing	0.009	N	0.571	neutral	None	None	None	None	I
S/K	0.3911	ambiguous	0.3818	ambiguous	-0.432	Destabilizing	0.018	N	0.383	neutral	None	None	None	None	I
S/L	0.0691	likely_benign	0.0803	benign	-0.337	Destabilizing	0.004	N	0.477	neutral	None	None	None	None	I
S/M	0.1146	likely_benign	0.1339	benign	-0.047	Destabilizing	0.245	N	0.548	neutral	None	None	None	None	I
S/N	0.0942	likely_benign	0.0995	benign	-0.159	Destabilizing	0.009	N	0.423	neutral	None	None	None	None	I
S/P	0.0858	likely_benign	0.0853	benign	-0.353	Destabilizing	None	N	0.278	neutral	N	0.363714892	None	None	I
S/Q	0.2624	likely_benign	0.2592	benign	-0.442	Destabilizing	0.085	N	0.437	neutral	None	None	None	None	I
S/R	0.3407	ambiguous	0.3569	ambiguous	-0.224	Destabilizing	0.044	N	0.521	neutral	None	None	None	None	I
S/T	0.0628	likely_benign	0.0728	benign	-0.306	Destabilizing	None	N	0.175	neutral	N	0.386378321	None	None	I
S/V	0.0893	likely_benign	0.1022	benign	-0.353	Destabilizing	None	N	0.393	neutral	None	None	None	None	I
S/W	0.2247	likely_benign	0.2542	benign	-1.035	Destabilizing	0.788	D	0.621	neutral	None	None	None	None	I
S/Y	0.1324	likely_benign	0.1396	benign	-0.765	Destabilizing	0.065	N	0.63	neutral	N	0.426667506	None	None	I

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.