TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26653	80182;80183;80184	chr2:178566175;178566174;178566173	chr2:179430902;179430901;179430900
N2AB	25012	75259;75260;75261	chr2:178566175;178566174;178566173	chr2:179430902;179430901;179430900
N2A	24085	72478;72479;72480	chr2:178566175;178566174;178566173	chr2:179430902;179430901;179430900
N2B	17588	52987;52988;52989	chr2:178566175;178566174;178566173	chr2:179430902;179430901;179430900
Novex-1	17713	53362;53363;53364	chr2:178566175;178566174;178566173	chr2:179430902;179430901;179430900
Novex-2	17780	53563;53564;53565	chr2:178566175;178566174;178566173	chr2:179430902;179430901;179430900
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: C
• RefSeq wild type transcript codon: TGT
• RefSeq wild type template codon: ACA
• Domain: Ig-138
• Domain position: 60
• Structural Position: 144
• Q(SASA): 0.1154
• 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
C/Y	rs752562709	-0.91	0.99	N	0.678	0.613	0.770712332363	gnomAD-2.1.1	2.01E-05	None	None	None	None	N	None	0	0	None	0	2.78676E-04	None	0	None	0	0	0
C/Y	rs752562709	-0.91	0.99	N	0.678	0.613	0.770712332363	gnomAD-4.0.0	7.95753E-06	None	None	None	None	N	None	0	0	None	0	1.38696E-04	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
C/A	0.6651	likely_pathogenic	0.6145	pathogenic	-0.337	Destabilizing	0.019	N	0.323	neutral	None	None	None	None	N
C/D	0.9969	likely_pathogenic	0.9961	pathogenic	-0.978	Destabilizing	0.978	D	0.73	prob.delet.	None	None	None	None	N
C/E	0.9985	likely_pathogenic	0.9978	pathogenic	-0.916	Destabilizing	0.956	D	0.732	prob.delet.	None	None	None	None	N
C/F	0.9105	likely_pathogenic	0.8849	pathogenic	-0.643	Destabilizing	0.97	D	0.67	neutral	N	0.487325398	None	None	N
C/G	0.676	likely_pathogenic	0.635	pathogenic	-0.538	Destabilizing	0.698	D	0.665	neutral	N	0.505936632	None	None	N
C/H	0.9924	likely_pathogenic	0.9898	pathogenic	-1.253	Destabilizing	0.998	D	0.711	prob.delet.	None	None	None	None	N
C/I	0.8187	likely_pathogenic	0.7667	pathogenic	0.113	Stabilizing	0.956	D	0.669	neutral	None	None	None	None	N
C/K	0.9988	likely_pathogenic	0.9982	pathogenic	0.078	Stabilizing	0.956	D	0.719	prob.delet.	None	None	None	None	N
C/L	0.8284	likely_pathogenic	0.7977	pathogenic	0.113	Stabilizing	0.754	D	0.523	neutral	None	None	None	None	N
C/M	0.9077	likely_pathogenic	0.8824	pathogenic	0.461	Stabilizing	0.998	D	0.648	neutral	None	None	None	None	N
C/N	0.9763	likely_pathogenic	0.9715	pathogenic	-0.143	Destabilizing	0.978	D	0.731	prob.delet.	None	None	None	None	N
C/P	0.9904	likely_pathogenic	0.988	pathogenic	-0.01	Destabilizing	0.978	D	0.729	prob.delet.	None	None	None	None	N
C/Q	0.9938	likely_pathogenic	0.9914	pathogenic	-0.217	Destabilizing	0.978	D	0.736	prob.delet.	None	None	None	None	N
C/R	0.9892	likely_pathogenic	0.9854	pathogenic	-0.075	Destabilizing	0.97	D	0.727	prob.delet.	N	0.505936632	None	None	N
C/S	0.6236	likely_pathogenic	0.5775	pathogenic	-0.235	Destabilizing	0.698	D	0.576	neutral	N	0.469834785	None	None	N
C/T	0.6552	likely_pathogenic	0.6224	pathogenic	-0.04	Destabilizing	0.86	D	0.619	neutral	None	None	None	None	N
C/V	0.6055	likely_pathogenic	0.5665	pathogenic	-0.01	Destabilizing	0.754	D	0.576	neutral	None	None	None	None	N
C/W	0.9877	likely_pathogenic	0.9826	pathogenic	-0.969	Destabilizing	0.997	D	0.663	neutral	N	0.506190121	None	None	N
C/Y	0.9778	likely_pathogenic	0.9693	pathogenic	-0.554	Destabilizing	0.99	D	0.678	prob.neutral	N	0.505936632	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.