Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1684250749;50750;50751 chr2:178611785;178611784;178611783chr2:179476512;179476511;179476510
N2AB1520145826;45827;45828 chr2:178611785;178611784;178611783chr2:179476512;179476511;179476510
N2A1427443045;43046;43047 chr2:178611785;178611784;178611783chr2:179476512;179476511;179476510
N2B777723554;23555;23556 chr2:178611785;178611784;178611783chr2:179476512;179476511;179476510
Novex-1790223929;23930;23931 chr2:178611785;178611784;178611783chr2:179476512;179476511;179476510
Novex-2796924130;24131;24132 chr2:178611785;178611784;178611783chr2:179476512;179476511;179476510
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Fn3-10
  • Domain position: 92
  • Structural Position: 125
  • Q(SASA): 0.4887
  • Predicted PPI site: I

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
E/K None None 0.799 N 0.571 0.221 0.292062946507 gnomAD-4.0.0 1.59391E-06 None None None None I None 0 0 None 0 0 None 0 0 2.86229E-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
E/A 0.2504 likely_benign 0.2078 benign -0.116 Destabilizing 0.799 D 0.596 neutral N 0.470490728 None None I
E/C 0.9248 likely_pathogenic 0.8994 pathogenic -0.309 Destabilizing 0.998 D 0.82 deleterious None None None None I
E/D 0.0717 likely_benign 0.0717 benign -0.304 Destabilizing 0.002 N 0.169 neutral N 0.455392981 None None I
E/F 0.919 likely_pathogenic 0.8807 pathogenic -0.034 Destabilizing 0.991 D 0.789 deleterious None None None None I
E/G 0.2534 likely_benign 0.2084 benign -0.261 Destabilizing 0.799 D 0.587 neutral N 0.473923389 None None I
E/H 0.7066 likely_pathogenic 0.6192 pathogenic 0.604 Stabilizing 0.991 D 0.55 neutral None None None None I
E/I 0.6387 likely_pathogenic 0.5696 pathogenic 0.217 Stabilizing 0.974 D 0.798 deleterious None None None None I
E/K 0.3485 ambiguous 0.2443 benign 0.328 Stabilizing 0.799 D 0.571 neutral N 0.471862583 None None I
E/L 0.6343 likely_pathogenic 0.5807 pathogenic 0.217 Stabilizing 0.974 D 0.745 deleterious None None None None I
E/M 0.7169 likely_pathogenic 0.6407 pathogenic -0.045 Destabilizing 0.998 D 0.761 deleterious None None None None I
E/N 0.2709 likely_benign 0.2269 benign -0.002 Destabilizing 0.725 D 0.582 neutral None None None None I
E/P 0.5304 ambiguous 0.4868 ambiguous 0.125 Stabilizing 0.974 D 0.589 neutral None None None None I
E/Q 0.2788 likely_benign 0.2239 benign 0.03 Stabilizing 0.89 D 0.546 neutral N 0.47138682 None None I
E/R 0.5437 ambiguous 0.4191 ambiguous 0.658 Stabilizing 0.974 D 0.538 neutral None None None None I
E/S 0.2561 likely_benign 0.2151 benign -0.15 Destabilizing 0.841 D 0.568 neutral None None None None I
E/T 0.3655 ambiguous 0.3041 benign -0.021 Destabilizing 0.841 D 0.638 neutral None None None None I
E/V 0.4019 ambiguous 0.341 ambiguous 0.125 Stabilizing 0.966 D 0.649 prob.neutral N 0.466674818 None None I
E/W 0.9756 likely_pathogenic 0.9581 pathogenic 0.061 Stabilizing 0.998 D 0.815 deleterious None None None None I
E/Y 0.8375 likely_pathogenic 0.7708 pathogenic 0.201 Stabilizing 0.991 D 0.775 deleterious None None None None I

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.