Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC465014173;14174;14175 chr2:178739285;178739284;178739283chr2:179604012;179604011;179604010
N2AB433313222;13223;13224 chr2:178739285;178739284;178739283chr2:179604012;179604011;179604010
N2ANoneNone chr2:Nonechr2:None
N2B428713084;13085;13086 chr2:178739285;178739284;178739283chr2:179604012;179604011;179604010
Novex-1441213459;13460;13461 chr2:178739285;178739284;178739283chr2:179604012;179604011;179604010
Novex-2447913660;13661;13662 chr2:178739285;178739284;178739283chr2:179604012;179604011;179604010
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: F
  • RefSeq wild type transcript codon: TTC
  • RefSeq wild type template codon: AAG
  • Domain: Ig-29
  • Domain position: 45
  • Structural Position: 121
  • Q(SASA): 0.1646
  • 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
F/L rs2082065436 None 0.9 D 0.494 0.424 None gnomAD-4.0.0 1.59378E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86359E-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
F/A 0.853 likely_pathogenic 0.8518 pathogenic -3.096 Highly Destabilizing 0.983 D 0.557 neutral None None None None N
F/C 0.5521 ambiguous 0.5071 ambiguous -2.356 Highly Destabilizing 1.0 D 0.739 prob.delet. D 0.600686246 None None N
F/D 0.9318 likely_pathogenic 0.9314 pathogenic -3.569 Highly Destabilizing 0.999 D 0.798 deleterious None None None None N
F/E 0.9128 likely_pathogenic 0.9154 pathogenic -3.378 Highly Destabilizing 0.999 D 0.782 deleterious None None None None N
F/G 0.8946 likely_pathogenic 0.897 pathogenic -3.546 Highly Destabilizing 0.999 D 0.728 prob.delet. None None None None N
F/H 0.7267 likely_pathogenic 0.6876 pathogenic -2.132 Highly Destabilizing 1.0 D 0.71 prob.delet. None None None None N
F/I 0.4039 ambiguous 0.4165 ambiguous -1.627 Destabilizing 0.956 D 0.477 neutral N 0.50695778 None None N
F/K 0.9041 likely_pathogenic 0.8997 pathogenic -2.462 Highly Destabilizing 0.998 D 0.781 deleterious None None None None N
F/L 0.9101 likely_pathogenic 0.9111 pathogenic -1.627 Destabilizing 0.9 D 0.494 neutral D 0.555871076 None None N
F/M 0.6981 likely_pathogenic 0.6912 pathogenic -1.392 Destabilizing 0.998 D 0.637 neutral None None None None N
F/N 0.7835 likely_pathogenic 0.7739 pathogenic -2.899 Highly Destabilizing 0.999 D 0.804 deleterious None None None None N
F/P 0.9952 likely_pathogenic 0.9955 pathogenic -2.129 Highly Destabilizing 0.999 D 0.801 deleterious None None None None N
F/Q 0.8738 likely_pathogenic 0.8694 pathogenic -2.876 Highly Destabilizing 0.999 D 0.795 deleterious None None None None N
F/R 0.8204 likely_pathogenic 0.8165 pathogenic -1.886 Destabilizing 0.999 D 0.803 deleterious None None None None N
F/S 0.7503 likely_pathogenic 0.7491 pathogenic -3.554 Highly Destabilizing 0.997 D 0.695 prob.neutral D 0.633007888 None None N
F/T 0.776 likely_pathogenic 0.7676 pathogenic -3.246 Highly Destabilizing 0.995 D 0.671 neutral None None None None N
F/V 0.4202 ambiguous 0.4132 ambiguous -2.129 Highly Destabilizing 0.37 N 0.326 neutral N 0.501536968 None None N
F/W 0.5084 ambiguous 0.4916 ambiguous -0.782 Destabilizing 1.0 D 0.632 neutral None None None None N
F/Y 0.1539 likely_benign 0.1385 benign -1.183 Destabilizing 0.996 D 0.543 neutral N 0.507726186 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.