Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2575177476;77477;77478 chr2:178568881;178568880;178568879chr2:179433608;179433607;179433606
N2AB2411072553;72554;72555 chr2:178568881;178568880;178568879chr2:179433608;179433607;179433606
N2A2318369772;69773;69774 chr2:178568881;178568880;178568879chr2:179433608;179433607;179433606
N2B1668650281;50282;50283 chr2:178568881;178568880;178568879chr2:179433608;179433607;179433606
Novex-11681150656;50657;50658 chr2:178568881;178568880;178568879chr2:179433608;179433607;179433606
Novex-21687850857;50858;50859 chr2:178568881;178568880;178568879chr2:179433608;179433607;179433606
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTA
  • RefSeq wild type template codon: CAT
  • Domain: Fn3-75
  • Domain position: 54
  • Structural Position: 77
  • Q(SASA): 0.1969
  • 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
V/I rs1707037065 None 0.305 N 0.497 0.184 0.506189230309 gnomAD-4.0.0 1.59276E-06 None None None None I None 0 0 None 0 2.77562E-05 None 0 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
V/A 0.3245 likely_benign 0.3165 benign -1.472 Destabilizing 0.369 N 0.407 neutral N 0.479153464 None None I
V/C 0.7602 likely_pathogenic 0.748 pathogenic -0.882 Destabilizing 0.997 D 0.551 neutral None None None None I
V/D 0.8017 likely_pathogenic 0.7889 pathogenic -1.47 Destabilizing 0.97 D 0.566 neutral None None None None I
V/E 0.6451 likely_pathogenic 0.6332 pathogenic -1.334 Destabilizing 0.798 D 0.545 neutral N 0.507448709 None None I
V/F 0.4534 ambiguous 0.4128 ambiguous -0.823 Destabilizing 0.98 D 0.593 neutral None None None None I
V/G 0.321 likely_benign 0.3203 benign -1.925 Destabilizing 0.029 N 0.441 neutral N 0.517190723 None None I
V/H 0.8868 likely_pathogenic 0.8782 pathogenic -1.58 Destabilizing 0.998 D 0.643 neutral None None None None I
V/I 0.141 likely_benign 0.1379 benign -0.268 Destabilizing 0.305 N 0.497 neutral N 0.517057437 None None I
V/K 0.8291 likely_pathogenic 0.8168 pathogenic -1.178 Destabilizing 0.92 D 0.543 neutral None None None None I
V/L 0.4797 ambiguous 0.4815 ambiguous -0.268 Destabilizing 0.154 N 0.503 neutral N 0.476635477 None None I
V/M 0.3492 ambiguous 0.3412 ambiguous -0.233 Destabilizing 0.991 D 0.553 neutral None None None None I
V/N 0.603 likely_pathogenic 0.5928 pathogenic -1.245 Destabilizing 0.629 D 0.572 neutral None None None None I
V/P 0.9631 likely_pathogenic 0.9578 pathogenic -0.637 Destabilizing 0.775 D 0.58 neutral None None None None I
V/Q 0.6676 likely_pathogenic 0.6505 pathogenic -1.197 Destabilizing 0.89 D 0.612 neutral None None None None I
V/R 0.8072 likely_pathogenic 0.8038 pathogenic -0.935 Destabilizing 0.961 D 0.639 neutral None None None None I
V/S 0.3406 ambiguous 0.3367 benign -1.858 Destabilizing 0.048 N 0.398 neutral None None None None I
V/T 0.2647 likely_benign 0.2736 benign -1.59 Destabilizing 0.02 N 0.281 neutral None None None None I
V/W 0.9746 likely_pathogenic 0.9709 pathogenic -1.242 Destabilizing 0.999 D 0.698 prob.neutral None None None None I
V/Y 0.8799 likely_pathogenic 0.8601 pathogenic -0.829 Destabilizing 0.993 D 0.583 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.