TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22292	67099;67100;67101	chr2:178580505;178580504;178580503	chr2:179445232;179445231;179445230
N2AB	20651	62176;62177;62178	chr2:178580505;178580504;178580503	chr2:179445232;179445231;179445230
N2A	19724	59395;59396;59397	chr2:178580505;178580504;178580503	chr2:179445232;179445231;179445230
N2B	13227	39904;39905;39906	chr2:178580505;178580504;178580503	chr2:179445232;179445231;179445230
Novex-1	13352	40279;40280;40281	chr2:178580505;178580504;178580503	chr2:179445232;179445231;179445230
Novex-2	13419	40480;40481;40482	chr2:178580505;178580504;178580503	chr2:179445232;179445231;179445230
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-126
• Domain position: 28
• Structural Position: 45
• Q(SASA): 0.7294
• 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
K/T	None	None	1.0	N	0.699	0.506	0.419335720491	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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	0.3524	ambiguous	0.3065	benign	-0.063	Destabilizing	0.999	D	0.666	neutral	None	None	None	None	I
K/C	0.6513	likely_pathogenic	0.6109	pathogenic	-0.243	Destabilizing	1.0	D	0.754	deleterious	None	None	None	None	I
K/D	0.6376	likely_pathogenic	0.5752	pathogenic	0.001	Stabilizing	1.0	D	0.725	prob.delet.	None	None	None	None	I
K/E	0.2273	likely_benign	0.1869	benign	0.046	Stabilizing	0.999	D	0.601	neutral	N	0.462850097	None	None	I
K/F	0.8225	likely_pathogenic	0.762	pathogenic	-0.017	Destabilizing	1.0	D	0.727	prob.delet.	None	None	None	None	I
K/G	0.5954	likely_pathogenic	0.5321	ambiguous	-0.336	Destabilizing	1.0	D	0.654	neutral	None	None	None	None	I
K/H	0.2959	likely_benign	0.2649	benign	-0.638	Destabilizing	1.0	D	0.688	prob.neutral	None	None	None	None	I
K/I	0.319	likely_benign	0.2665	benign	0.597	Stabilizing	1.0	D	0.743	deleterious	None	None	None	None	I
K/L	0.3861	ambiguous	0.3447	ambiguous	0.597	Stabilizing	1.0	D	0.654	neutral	None	None	None	None	I
K/M	0.2688	likely_benign	0.2278	benign	0.283	Stabilizing	1.0	D	0.683	prob.neutral	N	0.492773582	None	None	I
K/N	0.4135	ambiguous	0.4058	ambiguous	0.017	Stabilizing	1.0	D	0.707	prob.neutral	N	0.50631566	None	None	I
K/P	0.954	likely_pathogenic	0.9377	pathogenic	0.407	Stabilizing	1.0	D	0.723	prob.delet.	None	None	None	None	I
K/Q	0.1416	likely_benign	0.122	benign	-0.096	Destabilizing	1.0	D	0.693	prob.neutral	N	0.507161022	None	None	I
K/R	0.0837	likely_benign	0.0804	benign	-0.269	Destabilizing	0.999	D	0.555	neutral	N	0.495906665	None	None	I
K/S	0.4086	ambiguous	0.3665	ambiguous	-0.47	Destabilizing	0.999	D	0.641	neutral	None	None	None	None	I
K/T	0.1617	likely_benign	0.141	benign	-0.257	Destabilizing	1.0	D	0.699	prob.neutral	N	0.467199911	None	None	I
K/V	0.2561	likely_benign	0.2171	benign	0.407	Stabilizing	1.0	D	0.709	prob.delet.	None	None	None	None	I
K/W	0.8457	likely_pathogenic	0.7986	pathogenic	-0.005	Destabilizing	1.0	D	0.757	deleterious	None	None	None	None	I
K/Y	0.6843	likely_pathogenic	0.6266	pathogenic	0.312	Stabilizing	1.0	D	0.709	prob.delet.	None	None	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.