Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2811384562;84563;84564 chr2:178561795;178561794;178561793chr2:179426522;179426521;179426520
N2AB2647279639;79640;79641 chr2:178561795;178561794;178561793chr2:179426522;179426521;179426520
N2A2554576858;76859;76860 chr2:178561795;178561794;178561793chr2:179426522;179426521;179426520
N2B1904857367;57368;57369 chr2:178561795;178561794;178561793chr2:179426522;179426521;179426520
Novex-11917357742;57743;57744 chr2:178561795;178561794;178561793chr2:179426522;179426521;179426520
Novex-21924057943;57944;57945 chr2:178561795;178561794;178561793chr2:179426522;179426521;179426520
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCC
  • RefSeq wild type template codon: AGG
  • Domain: Fn3-92
  • Domain position: 59
  • Structural Position: 90
  • Q(SASA): 0.2282
  • 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
S/F rs753201539 -0.862 0.994 N 0.733 0.454 0.65667953858 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.66168E-04
S/F rs753201539 -0.862 0.994 N 0.733 0.454 0.65667953858 gnomAD-4.0.0 1.02644E-05 None None None None N None 0 0 None 0 0 None 0 0 1.34926E-05 0 0
S/T None None 0.944 N 0.472 0.279 0.238705975628 gnomAD-4.0.0 1.59172E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.0248E-05
S/Y rs753201539 -0.514 0.994 N 0.733 0.44 0.657976263744 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 5.6E-05 None 0 None 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
S/A 0.0913 likely_benign 0.092 benign -0.736 Destabilizing 0.63 D 0.429 neutral N 0.471221108 None None N
S/C 0.1179 likely_benign 0.1317 benign -0.364 Destabilizing 0.999 D 0.707 prob.neutral N 0.481731721 None None N
S/D 0.6904 likely_pathogenic 0.6756 pathogenic -0.085 Destabilizing 0.916 D 0.564 neutral None None None None N
S/E 0.748 likely_pathogenic 0.7239 pathogenic 0.012 Stabilizing 0.957 D 0.563 neutral None None None None N
S/F 0.3187 likely_benign 0.3225 benign -0.792 Destabilizing 0.994 D 0.733 prob.delet. N 0.484503198 None None N
S/G 0.133 likely_benign 0.1267 benign -1.07 Destabilizing 0.014 N 0.312 neutral None None None None N
S/H 0.4817 ambiguous 0.49 ambiguous -1.426 Destabilizing 0.999 D 0.713 prob.delet. None None None None N
S/I 0.2894 likely_benign 0.3081 benign 0.071 Stabilizing 0.996 D 0.703 prob.neutral None None None None N
S/K 0.8155 likely_pathogenic 0.7904 pathogenic -0.158 Destabilizing 0.916 D 0.591 neutral None None None None N
S/L 0.1554 likely_benign 0.1555 benign 0.071 Stabilizing 0.987 D 0.631 neutral None None None None N
S/M 0.2325 likely_benign 0.2323 benign 0.081 Stabilizing 0.999 D 0.709 prob.delet. None None None None N
S/N 0.2004 likely_benign 0.2018 benign -0.436 Destabilizing 0.916 D 0.579 neutral None None None None N
S/P 0.9443 likely_pathogenic 0.9369 pathogenic -0.163 Destabilizing 0.994 D 0.694 prob.neutral N 0.49454283 None None N
S/Q 0.606 likely_pathogenic 0.6056 pathogenic -0.363 Destabilizing 0.996 D 0.637 neutral None None None None N
S/R 0.7611 likely_pathogenic 0.7378 pathogenic -0.352 Destabilizing 0.987 D 0.689 prob.neutral None None None None N
S/T 0.0801 likely_benign 0.082 benign -0.368 Destabilizing 0.944 D 0.472 neutral N 0.418376096 None None N
S/V 0.2462 likely_benign 0.2653 benign -0.163 Destabilizing 0.987 D 0.659 neutral None None None None N
S/W 0.5567 ambiguous 0.5349 ambiguous -0.85 Destabilizing 0.999 D 0.724 prob.delet. None None None None N
S/Y 0.3031 likely_benign 0.2898 benign -0.48 Destabilizing 0.994 D 0.733 prob.delet. N 0.484756687 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.