Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1624848967;48968;48969 chr2:178614865;178614864;178614863chr2:179479592;179479591;179479590
N2AB1460744044;44045;44046 chr2:178614865;178614864;178614863chr2:179479592;179479591;179479590
N2A1368041263;41264;41265 chr2:178614865;178614864;178614863chr2:179479592;179479591;179479590
N2B718321772;21773;21774 chr2:178614865;178614864;178614863chr2:179479592;179479591;179479590
Novex-1730822147;22148;22149 chr2:178614865;178614864;178614863chr2:179479592;179479591;179479590
Novex-2737522348;22349;22350 chr2:178614865;178614864;178614863chr2:179479592;179479591;179479590
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: Q
  • RefSeq wild type transcript codon: CAG
  • RefSeq wild type template codon: GTC
  • Domain: Fn3-5
  • Domain position: 94
  • Structural Position: 129
  • Q(SASA): 0.4064
  • 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
Q/K rs890836589 0.182 0.89 N 0.451 0.184 0.159798565429 gnomAD-2.1.1 5.32E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.27E-05 0
Q/K rs890836589 0.182 0.89 N 0.451 0.184 0.159798565429 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
Q/K rs890836589 0.182 0.89 N 0.451 0.184 0.159798565429 gnomAD-4.0.0 1.33488E-05 None None None None N None 0 0 None 0 0 None 0 0 1.72726E-05 0 1.63951E-05
Q/R rs2057018597 None 0.89 N 0.583 0.097 0.163833314356 gnomAD-4.0.0 1.70085E-06 None None None None N None 0 0 None 0 0 None 0 0 3.04951E-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
Q/A 0.2574 likely_benign 0.2692 benign -0.748 Destabilizing 0.685 D 0.533 neutral None None None None N
Q/C 0.6301 likely_pathogenic 0.6646 pathogenic -0.032 Destabilizing 0.998 D 0.789 deleterious None None None None N
Q/D 0.9036 likely_pathogenic 0.9161 pathogenic -0.316 Destabilizing 0.97 D 0.519 neutral None None None None N
Q/E 0.1234 likely_benign 0.1418 benign -0.162 Destabilizing 0.91 D 0.394 neutral N 0.474613149 None None N
Q/F 0.8488 likely_pathogenic 0.8443 pathogenic -0.331 Destabilizing 0.949 D 0.762 deleterious None None None None N
Q/G 0.6726 likely_pathogenic 0.7015 pathogenic -1.135 Destabilizing 0.97 D 0.627 neutral None None None None N
Q/H 0.5784 likely_pathogenic 0.6012 pathogenic -0.641 Destabilizing 0.989 D 0.614 neutral N 0.500137535 None None N
Q/I 0.4038 ambiguous 0.4083 ambiguous 0.264 Stabilizing 0.725 D 0.66 prob.neutral None None None None N
Q/K 0.1382 likely_benign 0.1364 benign -0.123 Destabilizing 0.89 D 0.451 neutral N 0.46424479 None None N
Q/L 0.1102 likely_benign 0.1037 benign 0.264 Stabilizing 0.005 N 0.395 neutral N 0.418482694 None None N
Q/M 0.2608 likely_benign 0.2687 benign 0.536 Stabilizing 0.949 D 0.582 neutral None None None None N
Q/N 0.6896 likely_pathogenic 0.7154 pathogenic -0.802 Destabilizing 0.991 D 0.524 neutral None None None None N
Q/P 0.226 likely_benign 0.2038 benign -0.043 Destabilizing 0.989 D 0.665 prob.neutral N 0.502123263 None None N
Q/R 0.1671 likely_benign 0.1616 benign -0.071 Destabilizing 0.89 D 0.583 neutral N 0.487390338 None None N
Q/S 0.5322 ambiguous 0.5673 pathogenic -1.023 Destabilizing 0.915 D 0.381 neutral None None None None N
Q/T 0.3622 ambiguous 0.3749 ambiguous -0.659 Destabilizing 0.915 D 0.633 neutral None None None None N
Q/V 0.252 likely_benign 0.2612 benign -0.043 Destabilizing 0.725 D 0.595 neutral None None None None N
Q/W 0.8855 likely_pathogenic 0.8724 pathogenic -0.182 Destabilizing 0.998 D 0.799 deleterious None None None None N
Q/Y 0.8058 likely_pathogenic 0.8109 pathogenic 0.071 Stabilizing 0.991 D 0.692 prob.delet. 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.