TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23001	69226;69227;69228	chr2:178577334;178577333;178577332	chr2:179442061;179442060;179442059
N2AB	21360	64303;64304;64305	chr2:178577334;178577333;178577332	chr2:179442061;179442060;179442059
N2A	20433	61522;61523;61524	chr2:178577334;178577333;178577332	chr2:179442061;179442060;179442059
N2B	13936	42031;42032;42033	chr2:178577334;178577333;178577332	chr2:179442061;179442060;179442059
Novex-1	14061	42406;42407;42408	chr2:178577334;178577333;178577332	chr2:179442061;179442060;179442059
Novex-2	14128	42607;42608;42609	chr2:178577334;178577333;178577332	chr2:179442061;179442060;179442059
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-128
• Domain position: 52
• Structural Position: 134
• Q(SASA): 0.3519
• 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
T/I	rs1215862556	-0.402	1.0	N	0.766	0.457	0.584891512018	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	2.9E-05	None	0	0	None	0	None	0	0	0
T/I	rs1215862556	-0.402	1.0	N	0.766	0.457	0.584891512018	gnomAD-4.0.0	2.7374E-06	None	None	None	None	N	None	2.98972E-05	4.47287E-05	None	0	2.52449E-05	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
T/A	0.0801	likely_benign	0.0806	benign	-0.656	Destabilizing	0.999	D	0.617	neutral	N	0.481841215	None	None	N
T/C	0.4795	ambiguous	0.4989	ambiguous	-0.371	Destabilizing	1.0	D	0.695	prob.neutral	None	None	None	None	N
T/D	0.3772	ambiguous	0.4038	ambiguous	0.561	Stabilizing	1.0	D	0.779	deleterious	None	None	None	None	N
T/E	0.3171	likely_benign	0.3325	benign	0.507	Stabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
T/F	0.2539	likely_benign	0.2523	benign	-1.086	Destabilizing	1.0	D	0.776	deleterious	None	None	None	None	N
T/G	0.2073	likely_benign	0.2067	benign	-0.806	Destabilizing	1.0	D	0.718	prob.delet.	None	None	None	None	N
T/H	0.2503	likely_benign	0.2578	benign	-1.13	Destabilizing	1.0	D	0.731	prob.delet.	None	None	None	None	N
T/I	0.2327	likely_benign	0.2392	benign	-0.371	Destabilizing	1.0	D	0.766	deleterious	N	0.490163008	None	None	N
T/K	0.199	likely_benign	0.2007	benign	-0.298	Destabilizing	1.0	D	0.782	deleterious	N	0.492402213	None	None	N
T/L	0.1177	likely_benign	0.1194	benign	-0.371	Destabilizing	0.999	D	0.674	neutral	None	None	None	None	N
T/M	0.1131	likely_benign	0.112	benign	-0.116	Destabilizing	1.0	D	0.703	prob.neutral	None	None	None	None	N
T/N	0.1216	likely_benign	0.1315	benign	-0.128	Destabilizing	1.0	D	0.766	deleterious	None	None	None	None	N
T/P	0.3666	ambiguous	0.3942	ambiguous	-0.437	Destabilizing	1.0	D	0.758	deleterious	N	0.520610322	None	None	N
T/Q	0.2135	likely_benign	0.2231	benign	-0.33	Destabilizing	1.0	D	0.762	deleterious	None	None	None	None	N
T/R	0.1694	likely_benign	0.1757	benign	-0.12	Destabilizing	1.0	D	0.759	deleterious	N	0.488767262	None	None	N
T/S	0.0991	likely_benign	0.1012	benign	-0.46	Destabilizing	0.999	D	0.634	neutral	N	0.468237274	None	None	N
T/V	0.1761	likely_benign	0.1758	benign	-0.437	Destabilizing	0.999	D	0.665	neutral	None	None	None	None	N
T/W	0.6438	likely_pathogenic	0.6631	pathogenic	-1.011	Destabilizing	1.0	D	0.73	prob.delet.	None	None	None	None	N
T/Y	0.2373	likely_benign	0.2461	benign	-0.751	Destabilizing	1.0	D	0.77	deleterious	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.