TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28820	86683;86684;86685	chr2:178559674;178559673;178559672	chr2:179424401;179424400;179424399
N2AB	27179	81760;81761;81762	chr2:178559674;178559673;178559672	chr2:179424401;179424400;179424399
N2A	26252	78979;78980;78981	chr2:178559674;178559673;178559672	chr2:179424401;179424400;179424399
N2B	19755	59488;59489;59490	chr2:178559674;178559673;178559672	chr2:179424401;179424400;179424399
Novex-1	19880	59863;59864;59865	chr2:178559674;178559673;178559672	chr2:179424401;179424400;179424399
Novex-2	19947	60064;60065;60066	chr2:178559674;178559673;178559672	chr2:179424401;179424400;179424399
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: Ig-144
• Domain position: 66
• Structural Position: 151
• Q(SASA): 0.2176
• 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
S/C	rs1212262872	-0.631	0.995	N	0.749	0.521	0.595157249553	gnomAD-2.1.1	4.06E-06	None	None	None	None	N	None	6.47E-05	0	None	0	0	None	0	None	0	0	0
S/C	rs1212262872	-0.631	0.995	N	0.749	0.521	0.595157249553	gnomAD-4.0.0	1.59634E-06	None	None	None	None	N	None	5.67666E-05	0	None	0	0	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
S/A	0.1244	likely_benign	0.106	benign	-0.744	Destabilizing	0.025	N	0.244	neutral	N	0.454886762	None	None	N
S/C	0.1792	likely_benign	0.1556	benign	-0.514	Destabilizing	0.995	D	0.749	deleterious	N	0.515614778	None	None	N
S/D	0.9556	likely_pathogenic	0.9389	pathogenic	-0.104	Destabilizing	0.957	D	0.54	neutral	None	None	None	None	N
S/E	0.9579	likely_pathogenic	0.9453	pathogenic	-0.132	Destabilizing	0.916	D	0.491	neutral	None	None	None	None	N
S/F	0.709	likely_pathogenic	0.6413	pathogenic	-1.062	Destabilizing	0.983	D	0.829	deleterious	N	0.515361289	None	None	N
S/G	0.1864	likely_benign	0.1627	benign	-0.955	Destabilizing	0.845	D	0.473	neutral	None	None	None	None	N
S/H	0.8441	likely_pathogenic	0.8129	pathogenic	-1.436	Destabilizing	0.999	D	0.746	deleterious	None	None	None	None	N
S/I	0.7381	likely_pathogenic	0.6443	pathogenic	-0.296	Destabilizing	0.975	D	0.797	deleterious	None	None	None	None	N
S/K	0.9804	likely_pathogenic	0.9716	pathogenic	-0.66	Destabilizing	0.916	D	0.492	neutral	None	None	None	None	N
S/L	0.3907	ambiguous	0.2969	benign	-0.296	Destabilizing	0.845	D	0.607	neutral	None	None	None	None	N
S/M	0.5167	ambiguous	0.4165	ambiguous	0.049	Stabilizing	0.999	D	0.747	deleterious	None	None	None	None	N
S/N	0.6422	likely_pathogenic	0.5765	pathogenic	-0.57	Destabilizing	0.987	D	0.587	neutral	None	None	None	None	N
S/P	0.9812	likely_pathogenic	0.9719	pathogenic	-0.413	Destabilizing	0.983	D	0.763	deleterious	D	0.53304747	None	None	N
S/Q	0.9035	likely_pathogenic	0.882	pathogenic	-0.775	Destabilizing	0.987	D	0.668	neutral	None	None	None	None	N
S/R	0.9488	likely_pathogenic	0.9349	pathogenic	-0.507	Destabilizing	0.987	D	0.774	deleterious	None	None	None	None	N
S/T	0.1746	likely_benign	0.1275	benign	-0.648	Destabilizing	0.892	D	0.455	neutral	N	0.51230027	None	None	N
S/V	0.6716	likely_pathogenic	0.5606	ambiguous	-0.413	Destabilizing	0.95	D	0.697	prob.neutral	None	None	None	None	N
S/W	0.8675	likely_pathogenic	0.8464	pathogenic	-1.002	Destabilizing	0.999	D	0.763	deleterious	None	None	None	None	N
S/Y	0.6868	likely_pathogenic	0.6347	pathogenic	-0.747	Destabilizing	0.994	D	0.823	deleterious	D	0.53330096	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.