Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2796984130;84131;84132 chr2:178562227;178562226;178562225chr2:179426954;179426953;179426952
N2AB2632879207;79208;79209 chr2:178562227;178562226;178562225chr2:179426954;179426953;179426952
N2A2540176426;76427;76428 chr2:178562227;178562226;178562225chr2:179426954;179426953;179426952
N2B1890456935;56936;56937 chr2:178562227;178562226;178562225chr2:179426954;179426953;179426952
Novex-11902957310;57311;57312 chr2:178562227;178562226;178562225chr2:179426954;179426953;179426952
Novex-21909657511;57512;57513 chr2:178562227;178562226;178562225chr2:179426954;179426953;179426952
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-142
  • Domain position: 7
  • Structural Position: 8
  • Q(SASA): 1.0776
  • 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
F/C None None 0.988 N 0.564 0.363 0.506068822696 gnomAD-4.0.0 1.36945E-06 None None None None I None 0 0 None 0 0 None 0 0 1.7995E-06 0 0
F/L rs1326312307 -0.007 0.003 N 0.27 0.228 0.166414681773 gnomAD-2.1.1 4.05E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.94E-06 0
F/L rs1326312307 -0.007 0.003 N 0.27 0.228 0.166414681773 gnomAD-4.0.0 2.05427E-06 None None None None I None 0 0 None 0 0 None 0 0 8.99798E-07 1.16214E-05 1.65848E-05
F/S None None 0.782 N 0.555 0.223 0.431602765429 gnomAD-4.0.0 6.84724E-07 None None None None I None 0 0 None 0 0 None 1.87568E-05 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
F/A 0.7228 likely_pathogenic 0.6656 pathogenic -1.185 Destabilizing 0.575 D 0.543 neutral None None None None I
F/C 0.5444 ambiguous 0.4827 ambiguous -0.695 Destabilizing 0.988 D 0.564 neutral N 0.483164438 None None I
F/D 0.8773 likely_pathogenic 0.842 pathogenic 0.159 Stabilizing 0.906 D 0.598 neutral None None None None I
F/E 0.9122 likely_pathogenic 0.8894 pathogenic 0.178 Stabilizing 0.906 D 0.608 neutral None None None None I
F/G 0.8095 likely_pathogenic 0.7756 pathogenic -1.39 Destabilizing 0.906 D 0.597 neutral None None None None I
F/H 0.7198 likely_pathogenic 0.6613 pathogenic 0.116 Stabilizing 0.826 D 0.553 neutral None None None None I
F/I 0.4014 ambiguous 0.3571 ambiguous -0.622 Destabilizing 0.338 N 0.551 neutral N 0.469362143 None None I
F/K 0.9181 likely_pathogenic 0.9049 pathogenic -0.51 Destabilizing 0.826 D 0.605 neutral None None None None I
F/L 0.904 likely_pathogenic 0.8844 pathogenic -0.622 Destabilizing 0.003 N 0.27 neutral N 0.448554728 None None I
F/M 0.6783 likely_pathogenic 0.6442 pathogenic -0.724 Destabilizing 0.826 D 0.543 neutral None None None None I
F/N 0.7817 likely_pathogenic 0.7403 pathogenic -0.636 Destabilizing 0.906 D 0.601 neutral None None None None I
F/P 0.9721 likely_pathogenic 0.9685 pathogenic -0.796 Destabilizing 0.967 D 0.606 neutral None None None None I
F/Q 0.8373 likely_pathogenic 0.8146 pathogenic -0.627 Destabilizing 0.906 D 0.606 neutral None None None None I
F/R 0.8286 likely_pathogenic 0.8203 pathogenic -0.087 Destabilizing 0.906 D 0.601 neutral None None None None I
F/S 0.5543 ambiguous 0.4868 ambiguous -1.235 Destabilizing 0.782 D 0.555 neutral N 0.478045184 None None I
F/T 0.7177 likely_pathogenic 0.6631 pathogenic -1.124 Destabilizing 0.826 D 0.55 neutral None None None None I
F/V 0.3852 ambiguous 0.345 ambiguous -0.796 Destabilizing 0.338 N 0.547 neutral N 0.451764867 None None I
F/W 0.6289 likely_pathogenic 0.6264 pathogenic -0.274 Destabilizing 0.973 D 0.556 neutral None None None None I
F/Y 0.2122 likely_benign 0.1888 benign -0.373 Destabilizing 0.001 N 0.299 neutral N 0.47113657 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.