Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1902557298;57299;57300 chr2:178598544;178598543;178598542chr2:179463271;179463270;179463269
N2AB1738452375;52376;52377 chr2:178598544;178598543;178598542chr2:179463271;179463270;179463269
N2A1645749594;49595;49596 chr2:178598544;178598543;178598542chr2:179463271;179463270;179463269
N2B996030103;30104;30105 chr2:178598544;178598543;178598542chr2:179463271;179463270;179463269
Novex-11008530478;30479;30480 chr2:178598544;178598543;178598542chr2:179463271;179463270;179463269
Novex-21015230679;30680;30681 chr2:178598544;178598543;178598542chr2:179463271;179463270;179463269
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: Fn3-26
  • Domain position: 38
  • Structural Position: 40
  • Q(SASA): 0.1529
  • 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
V/A rs762688055 -2.808 0.058 N 0.325 0.351 0.600985507913 gnomAD-2.1.1 3.62E-05 None None None None N None 0 0 None 0 5.25818E-04 None 0 None 0 0 0
V/A rs762688055 -2.808 0.058 N 0.325 0.351 0.600985507913 gnomAD-3.1.2 1.97E-05 None None None None N None 0 0 0 0 5.82298E-04 None 0 0 0 0 0
V/A rs762688055 -2.808 0.058 N 0.325 0.351 0.600985507913 gnomAD-4.0.0 8.6995E-06 None None None None N None 0 0 None 0 2.46615E-04 None 0 0 1.69677E-06 0 1.60421E-05
V/F None None 0.976 D 0.744 0.622 0.750674329801 gnomAD-4.0.0 6.8647E-07 None None None None N None 0 0 None 0 0 None 0 0 0 0 1.6608E-05
V/I rs181957743 -0.612 0.075 N 0.251 0.129 None gnomAD-2.1.1 1.70452E-04 None None None None N None 0 1.08244E-03 None 0 0 None 6.85E-05 None 0 3.93E-05 4.25653E-04
V/I rs181957743 -0.612 0.075 N 0.251 0.129 None gnomAD-3.1.2 1.11873E-04 None None None None N None 2.42E-05 9.18274E-04 0 0 0 None 0 0 2.94E-05 0 0
V/I rs181957743 -0.612 0.075 N 0.251 0.129 None 1000 genomes 1.99681E-04 None None None None N None 0 1.4E-03 None None 0 0 None None None 0 None
V/I rs181957743 -0.612 0.075 N 0.251 0.129 None gnomAD-4.0.0 5.84285E-05 None None None None N None 1.33987E-05 1.02072E-03 None 0 2.24205E-05 None 0 1.65673E-04 1.9514E-05 5.58809E-05 4.8134E-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
V/A 0.5509 ambiguous 0.5983 pathogenic -2.351 Highly Destabilizing 0.058 N 0.325 neutral N 0.515308382 None None N
V/C 0.9209 likely_pathogenic 0.9308 pathogenic -1.724 Destabilizing 0.998 D 0.755 deleterious None None None None N
V/D 0.997 likely_pathogenic 0.9972 pathogenic -3.42 Highly Destabilizing 0.971 D 0.885 deleterious D 0.538781461 None None N
V/E 0.9907 likely_pathogenic 0.9895 pathogenic -3.1 Highly Destabilizing 0.978 D 0.839 deleterious None None None None N
V/F 0.78 likely_pathogenic 0.8115 pathogenic -1.394 Destabilizing 0.976 D 0.744 deleterious D 0.538527972 None None N
V/G 0.8962 likely_pathogenic 0.9104 pathogenic -2.952 Highly Destabilizing 0.942 D 0.839 deleterious D 0.538781461 None None N
V/H 0.9966 likely_pathogenic 0.9969 pathogenic -2.839 Highly Destabilizing 0.998 D 0.877 deleterious None None None None N
V/I 0.0904 likely_benign 0.089 benign -0.599 Destabilizing 0.075 N 0.251 neutral N 0.440525024 None None N
V/K 0.9928 likely_pathogenic 0.992 pathogenic -2.151 Highly Destabilizing 0.978 D 0.845 deleterious None None None None N
V/L 0.492 ambiguous 0.4806 ambiguous -0.599 Destabilizing 0.455 N 0.537 neutral N 0.461116514 None None N
V/M 0.5999 likely_pathogenic 0.6112 pathogenic -0.716 Destabilizing 0.956 D 0.645 neutral None None None None N
V/N 0.9909 likely_pathogenic 0.9918 pathogenic -2.849 Highly Destabilizing 0.993 D 0.905 deleterious None None None None N
V/P 0.963 likely_pathogenic 0.9704 pathogenic -1.164 Destabilizing 0.978 D 0.858 deleterious None None None None N
V/Q 0.9867 likely_pathogenic 0.9866 pathogenic -2.496 Highly Destabilizing 0.993 D 0.887 deleterious None None None None N
V/R 0.985 likely_pathogenic 0.9835 pathogenic -2.211 Highly Destabilizing 0.978 D 0.899 deleterious None None None None N
V/S 0.9269 likely_pathogenic 0.9358 pathogenic -3.34 Highly Destabilizing 0.915 D 0.813 deleterious None None None None N
V/T 0.6935 likely_pathogenic 0.7141 pathogenic -2.859 Highly Destabilizing 0.86 D 0.595 neutral None None None None N
V/W 0.9931 likely_pathogenic 0.9937 pathogenic -1.969 Destabilizing 0.998 D 0.841 deleterious None None None None N
V/Y 0.9811 likely_pathogenic 0.9834 pathogenic -1.617 Destabilizing 0.978 D 0.755 deleterious None None 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.