Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1997360142;60143;60144 chr2:178591987;178591986;178591985chr2:179456714;179456713;179456712
N2AB1833255219;55220;55221 chr2:178591987;178591986;178591985chr2:179456714;179456713;179456712
N2A1740552438;52439;52440 chr2:178591987;178591986;178591985chr2:179456714;179456713;179456712
N2B1090832947;32948;32949 chr2:178591987;178591986;178591985chr2:179456714;179456713;179456712
Novex-11103333322;33323;33324 chr2:178591987;178591986;178591985chr2:179456714;179456713;179456712
Novex-21110033523;33524;33525 chr2:178591987;178591986;178591985chr2:179456714;179456713;179456712
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAT
  • RefSeq wild type template codon: CTA
  • Domain: Fn3-32
  • Domain position: 97
  • Structural Position: 132
  • Q(SASA): 1.3308
  • 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
D/N rs148353350 0.342 0.06 N 0.225 0.206 None gnomAD-2.1.1 1.62E-05 None None None None N None 0 0 None 0 1.1288E-04 None 6.59E-05 None 0 0 0
D/N rs148353350 0.342 0.06 N 0.225 0.206 None gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 1.93723E-04 None 0 0 0 0 0
D/N rs148353350 0.342 0.06 N 0.225 0.206 None 1000 genomes 1.99681E-04 None None None None N None 0 0 None None 1E-03 0 None None None 0 None
D/N rs148353350 0.342 0.06 N 0.225 0.206 None gnomAD-4.0.0 5.58149E-06 None None None None N None 0 0 None 0 4.48009E-05 None 0 0 0 6.60997E-05 1.602E-05

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
D/A 0.7194 likely_pathogenic 0.7902 pathogenic -0.438 Destabilizing 0.958 D 0.567 neutral N 0.507450945 None None N
D/C 0.9568 likely_pathogenic 0.9739 pathogenic -0.264 Destabilizing 0.999 D 0.856 deleterious None None None None N
D/E 0.6901 likely_pathogenic 0.7264 pathogenic -0.488 Destabilizing 0.824 D 0.588 neutral N 0.488307823 None None N
D/F 0.9016 likely_pathogenic 0.9435 pathogenic -0.196 Destabilizing 0.997 D 0.734 deleterious None None None None N
D/G 0.8699 likely_pathogenic 0.9109 pathogenic -0.681 Destabilizing 0.919 D 0.656 prob.neutral N 0.505989507 None None N
D/H 0.7698 likely_pathogenic 0.8495 pathogenic -0.094 Destabilizing 0.988 D 0.588 neutral N 0.508491095 None None N
D/I 0.9049 likely_pathogenic 0.9459 pathogenic 0.171 Stabilizing 0.997 D 0.791 deleterious None None None None N
D/K 0.9481 likely_pathogenic 0.9669 pathogenic -0.123 Destabilizing 0.938 D 0.67 prob.neutral None None None None N
D/L 0.84 likely_pathogenic 0.8851 pathogenic 0.171 Stabilizing 0.991 D 0.771 deleterious None None None None N
D/M 0.9585 likely_pathogenic 0.9765 pathogenic 0.289 Stabilizing 0.999 D 0.793 deleterious None None None None N
D/N 0.4832 ambiguous 0.5678 pathogenic -0.493 Destabilizing 0.06 N 0.225 neutral N 0.469626062 None None N
D/P 0.9264 likely_pathogenic 0.9397 pathogenic -0.009 Destabilizing 0.997 D 0.649 prob.neutral None None None None N
D/Q 0.8919 likely_pathogenic 0.9269 pathogenic -0.422 Destabilizing 0.991 D 0.635 neutral None None None None N
D/R 0.9425 likely_pathogenic 0.9635 pathogenic 0.164 Stabilizing 0.991 D 0.753 deleterious None None None None N
D/S 0.5691 likely_pathogenic 0.649 pathogenic -0.619 Destabilizing 0.938 D 0.639 neutral None None None None N
D/T 0.8637 likely_pathogenic 0.9193 pathogenic -0.431 Destabilizing 0.938 D 0.672 prob.neutral None None None None N
D/V 0.817 likely_pathogenic 0.8863 pathogenic -0.009 Destabilizing 0.996 D 0.797 deleterious N 0.478919066 None None N
D/W 0.9748 likely_pathogenic 0.984 pathogenic -0.027 Destabilizing 0.999 D 0.875 deleterious None None None None N
D/Y 0.6344 likely_pathogenic 0.733 pathogenic 0.027 Stabilizing 0.996 D 0.749 deleterious N 0.508144378 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.