Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2867386242;86243;86244 chr2:178560115;178560114;178560113chr2:179424842;179424841;179424840
N2AB2703281319;81320;81321 chr2:178560115;178560114;178560113chr2:179424842;179424841;179424840
N2A2610578538;78539;78540 chr2:178560115;178560114;178560113chr2:179424842;179424841;179424840
N2B1960859047;59048;59049 chr2:178560115;178560114;178560113chr2:179424842;179424841;179424840
Novex-11973359422;59423;59424 chr2:178560115;178560114;178560113chr2:179424842;179424841;179424840
Novex-21980059623;59624;59625 chr2:178560115;178560114;178560113chr2:179424842;179424841;179424840
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Fn3-97
  • Domain position: 23
  • Structural Position: 25
  • Q(SASA): 0.4073
  • 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/L rs766198189 -0.472 0.007 N 0.18 0.06 0.265929055128 gnomAD-2.1.1 4.04E-06 None None None None I None 0 0 None 0 5.58E-05 None 0 None 0 0 0
V/L rs766198189 -0.472 0.007 N 0.18 0.06 0.265929055128 gnomAD-4.0.0 1.59131E-06 None None None None I None 0 0 None 0 2.775E-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 0.1391 likely_benign 0.1057 benign -1.052 Destabilizing None N 0.117 neutral N 0.403809289 None None I
V/C 0.597 likely_pathogenic 0.5267 ambiguous -0.783 Destabilizing 0.859 D 0.478 neutral None None None None I
V/D 0.2998 likely_benign 0.2377 benign -0.903 Destabilizing 0.042 N 0.421 neutral N 0.403846574 None None I
V/E 0.2551 likely_benign 0.215 benign -0.964 Destabilizing 0.104 N 0.427 neutral None None None None I
V/F 0.1796 likely_benign 0.1628 benign -0.968 Destabilizing 0.427 N 0.593 neutral N 0.471746435 None None I
V/G 0.1239 likely_benign 0.0941 benign -1.284 Destabilizing None N 0.356 neutral N 0.437633861 None None I
V/H 0.4799 ambiguous 0.4139 ambiguous -0.801 Destabilizing 0.667 D 0.503 neutral None None None None I
V/I 0.0787 likely_benign 0.0774 benign -0.554 Destabilizing None N 0.107 neutral N 0.406753593 None None I
V/K 0.3477 ambiguous 0.297 benign -0.98 Destabilizing 0.22 N 0.447 neutral None None None None I
V/L 0.1484 likely_benign 0.1342 benign -0.554 Destabilizing 0.007 N 0.18 neutral N 0.414853002 None None I
V/M 0.1193 likely_benign 0.1082 benign -0.471 Destabilizing 0.497 N 0.398 neutral None None None None I
V/N 0.1525 likely_benign 0.116 benign -0.714 Destabilizing 0.001 N 0.338 neutral None None None None I
V/P 0.5955 likely_pathogenic 0.4537 ambiguous -0.684 Destabilizing 0.364 N 0.584 neutral None None None None I
V/Q 0.2535 likely_benign 0.2112 benign -0.935 Destabilizing 0.667 D 0.624 neutral None None None None I
V/R 0.3465 ambiguous 0.3004 benign -0.394 Destabilizing 0.364 N 0.571 neutral None None None None I
V/S 0.1288 likely_benign 0.092 benign -1.123 Destabilizing 0.055 N 0.285 neutral None None None None I
V/T 0.1157 likely_benign 0.0914 benign -1.079 Destabilizing 0.002 N 0.115 neutral None None None None I
V/W 0.8052 likely_pathogenic 0.7626 pathogenic -1.089 Destabilizing 0.958 D 0.509 neutral None None None None I
V/Y 0.4916 ambiguous 0.437 ambiguous -0.815 Destabilizing 0.667 D 0.573 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.