TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	35141	105646;105647;105648	chr2:178531194;178531193;178531192	chr2:179395921;179395920;179395919
N2AB	33500	100723;100724;100725	chr2:178531194;178531193;178531192	chr2:179395921;179395920;179395919
N2A	32573	97942;97943;97944	chr2:178531194;178531193;178531192	chr2:179395921;179395920;179395919
N2B	26076	78451;78452;78453	chr2:178531194;178531193;178531192	chr2:179395921;179395920;179395919
Novex-1	26201	78826;78827;78828	chr2:178531194;178531193;178531192	chr2:179395921;179395920;179395919
Novex-2	26268	79027;79028;79029	chr2:178531194;178531193;178531192	chr2:179395921;179395920;179395919
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Y
• RefSeq wild type transcript codon: TAC
• RefSeq wild type template codon: ATG
• Domain: Ig-164
• Domain position: 13
• Structural Position: 18
• Q(SASA): 0.4499
• 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
Y/C	None	None	0.196	N	0.417	0.093	0.390220360785	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	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
Y/A	0.2494	likely_benign	0.2781	benign	-0.952	Destabilizing	None	N	0.219	neutral	None	None	None	None	N
Y/C	0.1184	likely_benign	0.1231	benign	None	Stabilizing	0.196	N	0.417	neutral	N	0.480859855	None	None	N
Y/D	0.1931	likely_benign	0.2108	benign	0.418	Stabilizing	0.007	N	0.419	neutral	N	0.398473332	None	None	N
Y/E	0.406	ambiguous	0.4154	ambiguous	0.408	Stabilizing	0.009	N	0.389	neutral	None	None	None	None	N
Y/F	0.1045	likely_benign	0.1086	benign	-0.467	Destabilizing	0.033	N	0.357	neutral	N	0.411903989	None	None	N
Y/G	0.2809	likely_benign	0.2878	benign	-1.159	Destabilizing	0.004	N	0.371	neutral	None	None	None	None	N
Y/H	0.1155	likely_benign	0.0975	benign	None	Stabilizing	None	N	0.179	neutral	N	0.424313139	None	None	N
Y/I	0.3553	ambiguous	0.3825	ambiguous	-0.409	Destabilizing	0.044	N	0.425	neutral	None	None	None	None	N
Y/K	0.3569	ambiguous	0.3615	ambiguous	-0.117	Destabilizing	0.018	N	0.389	neutral	None	None	None	None	N
Y/L	0.2955	likely_benign	0.2947	benign	-0.409	Destabilizing	0.009	N	0.346	neutral	None	None	None	None	N
Y/M	0.4556	ambiguous	0.4859	ambiguous	-0.25	Destabilizing	0.497	N	0.375	neutral	None	None	None	None	N
Y/N	0.1027	likely_benign	0.1032	benign	-0.357	Destabilizing	None	N	0.225	neutral	N	0.389776491	None	None	N
Y/P	0.4272	ambiguous	0.4132	ambiguous	-0.573	Destabilizing	None	N	0.259	neutral	None	None	None	None	N
Y/Q	0.2755	likely_benign	0.2513	benign	-0.318	Destabilizing	0.044	N	0.434	neutral	None	None	None	None	N
Y/R	0.2092	likely_benign	0.1967	benign	0.194	Stabilizing	0.044	N	0.428	neutral	None	None	None	None	N
Y/S	0.1034	likely_benign	0.1136	benign	-0.714	Destabilizing	None	N	0.217	neutral	N	0.36453133	None	None	N
Y/T	0.2295	likely_benign	0.2594	benign	-0.636	Destabilizing	0.004	N	0.391	neutral	None	None	None	None	N
Y/V	0.2695	likely_benign	0.2927	benign	-0.573	Destabilizing	0.009	N	0.365	neutral	None	None	None	None	N
Y/W	0.3253	likely_benign	0.323	benign	-0.525	Destabilizing	0.497	N	0.363	neutral	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.