Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2065362182;62183;62184 chr2:178589768;178589767;178589766chr2:179454495;179454494;179454493
N2AB1901257259;57260;57261 chr2:178589768;178589767;178589766chr2:179454495;179454494;179454493
N2A1808554478;54479;54480 chr2:178589768;178589767;178589766chr2:179454495;179454494;179454493
N2B1158834987;34988;34989 chr2:178589768;178589767;178589766chr2:179454495;179454494;179454493
Novex-11171335362;35363;35364 chr2:178589768;178589767;178589766chr2:179454495;179454494;179454493
Novex-21178035563;35564;35565 chr2:178589768;178589767;178589766chr2:179454495;179454494;179454493
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACC
  • RefSeq wild type template codon: TGG
  • Domain: Fn3-37
  • Domain position: 85
  • Structural Position: 120
  • Q(SASA): 0.3083
  • 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
T/I rs1553641323 None 0.669 N 0.529 0.123 None gnomAD-4.0.0 2.73722E-06 None None None None I None 0 0 None 0 5.0421E-05 None 0 0 1.79916E-06 0 0
T/S None None 0.136 N 0.272 0.085 0.137902524267 gnomAD-4.0.0 6.84304E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99582E-07 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
T/A 0.0832 likely_benign 0.0753 benign -0.762 Destabilizing 0.022 N 0.234 neutral N 0.359591578 None None I
T/C 0.332 likely_benign 0.3024 benign -0.544 Destabilizing 0.016 N 0.347 neutral None None None None I
T/D 0.7482 likely_pathogenic 0.6936 pathogenic -0.459 Destabilizing 0.842 D 0.543 neutral None None None None I
T/E 0.6381 likely_pathogenic 0.556 ambiguous -0.459 Destabilizing 0.842 D 0.538 neutral None None None None I
T/F 0.3299 likely_benign 0.3037 benign -0.707 Destabilizing 0.974 D 0.607 neutral None None None None I
T/G 0.3348 likely_benign 0.3256 benign -1.025 Destabilizing 0.728 D 0.573 neutral None None None None I
T/H 0.4703 ambiguous 0.4351 ambiguous -1.247 Destabilizing 0.998 D 0.622 neutral None None None None I
T/I 0.2562 likely_benign 0.2122 benign -0.15 Destabilizing 0.669 D 0.529 neutral N 0.436417566 None None I
T/K 0.5922 likely_pathogenic 0.5353 ambiguous -0.953 Destabilizing 0.842 D 0.533 neutral None None None None I
T/L 0.1752 likely_benign 0.1608 benign -0.15 Destabilizing 0.525 D 0.489 neutral None None None None I
T/M 0.1404 likely_benign 0.129 benign 0.041 Stabilizing 0.974 D 0.595 neutral None None None None I
T/N 0.2283 likely_benign 0.2199 benign -0.86 Destabilizing 0.801 D 0.573 neutral N 0.45569676 None None I
T/P 0.0942 likely_benign 0.0867 benign -0.322 Destabilizing 0.966 D 0.607 neutral N 0.328439165 None None I
T/Q 0.4417 ambiguous 0.3982 ambiguous -1.013 Destabilizing 0.974 D 0.589 neutral None None None None I
T/R 0.5105 ambiguous 0.4545 ambiguous -0.655 Destabilizing 0.974 D 0.605 neutral None None None None I
T/S 0.1568 likely_benign 0.1454 benign -1.082 Destabilizing 0.136 N 0.272 neutral N 0.37502239 None None I
T/V 0.144 likely_benign 0.1308 benign -0.322 Destabilizing 0.016 N 0.259 neutral None None None None I
T/W 0.7954 likely_pathogenic 0.7736 pathogenic -0.665 Destabilizing 0.998 D 0.637 neutral None None None None I
T/Y 0.3729 ambiguous 0.3485 ambiguous -0.463 Destabilizing 0.991 D 0.605 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.