Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1920957850;57851;57852 chr2:178595729;178595728;178595727chr2:179460456;179460455;179460454
N2AB1756852927;52928;52929 chr2:178595729;178595728;178595727chr2:179460456;179460455;179460454
N2A1664150146;50147;50148 chr2:178595729;178595728;178595727chr2:179460456;179460455;179460454
N2B1014430655;30656;30657 chr2:178595729;178595728;178595727chr2:179460456;179460455;179460454
Novex-11026931030;31031;31032 chr2:178595729;178595728;178595727chr2:179460456;179460455;179460454
Novex-21033631231;31232;31233 chr2:178595729;178595728;178595727chr2:179460456;179460455;179460454
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: Fn3-27
  • Domain position: 27
  • Structural Position: 28
  • Q(SASA): 0.9425
  • 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/D rs769829057 -0.019 0.006 N 0.3 0.083 0.266385636622 gnomAD-2.1.1 8.29E-06 None None None None I None 0 0 None 0 0 None 0 None 0 1.83E-05 0
E/D rs769829057 -0.019 0.006 N 0.3 0.083 0.266385636622 gnomAD-4.0.0 4.80402E-06 None None None None I None 0 0 None 0 0 None 0 0 6.30643E-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 0.1159 likely_benign 0.125 benign -0.006 Destabilizing 0.822 D 0.599 neutral N 0.465724539 None None I
E/C 0.7624 likely_pathogenic 0.807 pathogenic -0.068 Destabilizing 0.998 D 0.739 prob.delet. None None None None I
E/D 0.1071 likely_benign 0.1107 benign -0.26 Destabilizing 0.006 N 0.3 neutral N 0.46237759 None None I
E/F 0.6963 likely_pathogenic 0.7552 pathogenic -0.073 Destabilizing 0.998 D 0.671 neutral None None None None I
E/G 0.1602 likely_benign 0.183 benign -0.122 Destabilizing 0.822 D 0.512 neutral N 0.484158371 None None I
E/H 0.3781 ambiguous 0.4079 ambiguous 0.451 Stabilizing 0.998 D 0.668 neutral None None None None I
E/I 0.2562 likely_benign 0.2999 benign 0.239 Stabilizing 0.978 D 0.689 prob.neutral None None None None I
E/K 0.102 likely_benign 0.1216 benign 0.488 Stabilizing 0.822 D 0.626 neutral N 0.432977403 None None I
E/L 0.275 likely_benign 0.3209 benign 0.239 Stabilizing 0.978 D 0.685 prob.neutral None None None None I
E/M 0.3648 ambiguous 0.4131 ambiguous 0.075 Stabilizing 0.998 D 0.647 neutral None None None None I
E/N 0.2025 likely_benign 0.2228 benign 0.283 Stabilizing 0.915 D 0.618 neutral None None None None I
E/P 0.4225 ambiguous 0.4828 ambiguous 0.176 Stabilizing 0.978 D 0.631 neutral None None None None I
E/Q 0.1173 likely_benign 0.1236 benign 0.287 Stabilizing 0.942 D 0.607 neutral N 0.48283022 None None I
E/R 0.1855 likely_benign 0.212 benign 0.666 Stabilizing 0.978 D 0.673 neutral None None None None I
E/S 0.1562 likely_benign 0.1672 benign 0.14 Stabilizing 0.86 D 0.627 neutral None None None None I
E/T 0.1682 likely_benign 0.1888 benign 0.241 Stabilizing 0.956 D 0.565 neutral None None None None I
E/V 0.1562 likely_benign 0.1821 benign 0.176 Stabilizing 0.971 D 0.642 neutral N 0.490180267 None None I
E/W 0.8369 likely_pathogenic 0.8784 pathogenic -0.035 Destabilizing 0.998 D 0.742 deleterious None None None None I
E/Y 0.5564 ambiguous 0.6225 pathogenic 0.151 Stabilizing 0.998 D 0.635 neutral 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.