Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC33521100786;100787;100788 chr2:178536186;178536185;178536184chr2:179400913;179400912;179400911
N2AB3188095863;95864;95865 chr2:178536186;178536185;178536184chr2:179400913;179400912;179400911
N2A3095393082;93083;93084 chr2:178536186;178536185;178536184chr2:179400913;179400912;179400911
N2B2445673591;73592;73593 chr2:178536186;178536185;178536184chr2:179400913;179400912;179400911
Novex-12458173966;73967;73968 chr2:178536186;178536185;178536184chr2:179400913;179400912;179400911
Novex-22464874167;74168;74169 chr2:178536186;178536185;178536184chr2:179400913;179400912;179400911
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGT
  • RefSeq wild type template codon: CCA
  • Domain: Ig-158
  • Domain position: 26
  • Structural Position: 40
  • Q(SASA): 0.109
  • 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
G/D rs370516977 -2.046 1.0 D 0.837 0.821 None gnomAD-2.1.1 1.07E-05 None None None None N None 4.15E-05 0 None 0 0 None 0 None 4E-05 7.84E-06 0
G/D rs370516977 -2.046 1.0 D 0.837 0.821 None gnomAD-3.1.2 6.57E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
G/D rs370516977 -2.046 1.0 D 0.837 0.821 None gnomAD-4.0.0 4.33872E-06 None None None None N None 1.33494E-05 0 None 0 0 None 0 0 3.39087E-06 0 3.20349E-05
G/R rs1159933027 None 1.0 D 0.825 0.863 0.801866974335 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 3.28E-05 None 0 0 0
G/R rs1159933027 None 1.0 D 0.825 0.863 0.801866974335 gnomAD-4.0.0 6.84357E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15993E-05 0
G/S rs1159933027 -1.054 1.0 D 0.842 0.835 0.547638893815 gnomAD-2.1.1 7.16E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.57E-05 0
G/S rs1159933027 -1.054 1.0 D 0.842 0.835 0.547638893815 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
G/S rs1159933027 -1.054 1.0 D 0.842 0.835 0.547638893815 gnomAD-4.0.0 7.43783E-06 None None None None N None 0 0 None 0 0 None 0 0 1.01725E-05 0 0
G/V None None 1.0 D 0.791 0.802 0.777110454526 gnomAD-4.0.0 6.84351E-07 None None None None N None 0 0 None 0 0 None 0 0 8.99583E-07 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
G/A 0.9474 likely_pathogenic 0.9414 pathogenic -0.718 Destabilizing 1.0 D 0.786 deleterious D 0.549767238 None None N
G/C 0.9915 likely_pathogenic 0.9907 pathogenic -0.374 Destabilizing 1.0 D 0.725 prob.delet. D 0.613773243 None None N
G/D 0.9983 likely_pathogenic 0.9981 pathogenic -1.666 Destabilizing 1.0 D 0.837 deleterious D 0.637868364 None None N
G/E 0.9989 likely_pathogenic 0.9989 pathogenic -1.762 Destabilizing 1.0 D 0.827 deleterious None None None None N
G/F 0.9991 likely_pathogenic 0.999 pathogenic -1.204 Destabilizing 1.0 D 0.778 deleterious None None None None N
G/H 0.9996 likely_pathogenic 0.9996 pathogenic -1.629 Destabilizing 1.0 D 0.715 prob.delet. None None None None N
G/I 0.9986 likely_pathogenic 0.9985 pathogenic -0.491 Destabilizing 1.0 D 0.791 deleterious None None None None N
G/K 0.9996 likely_pathogenic 0.9996 pathogenic -1.464 Destabilizing 1.0 D 0.827 deleterious None None None None N
G/L 0.9988 likely_pathogenic 0.9988 pathogenic -0.491 Destabilizing 1.0 D 0.796 deleterious None None None None N
G/M 0.9996 likely_pathogenic 0.9996 pathogenic -0.109 Destabilizing 1.0 D 0.717 prob.delet. None None None None N
G/N 0.9989 likely_pathogenic 0.9989 pathogenic -0.842 Destabilizing 1.0 D 0.846 deleterious None None None None N
G/P 0.9996 likely_pathogenic 0.9995 pathogenic -0.532 Destabilizing 1.0 D 0.824 deleterious None None None None N
G/Q 0.9992 likely_pathogenic 0.9992 pathogenic -1.078 Destabilizing 1.0 D 0.821 deleterious None None None None N
G/R 0.9981 likely_pathogenic 0.998 pathogenic -1.091 Destabilizing 1.0 D 0.825 deleterious D 0.638675581 None None N
G/S 0.9526 likely_pathogenic 0.951 pathogenic -0.856 Destabilizing 1.0 D 0.842 deleterious D 0.575385712 None None N
G/T 0.9954 likely_pathogenic 0.9952 pathogenic -0.922 Destabilizing 1.0 D 0.823 deleterious None None None None N
G/V 0.9962 likely_pathogenic 0.9959 pathogenic -0.532 Destabilizing 1.0 D 0.791 deleterious D 0.62265622 None None N
G/W 0.9985 likely_pathogenic 0.9985 pathogenic -1.599 Destabilizing 1.0 D 0.727 prob.delet. None None None None N
G/Y 0.9993 likely_pathogenic 0.9992 pathogenic -1.265 Destabilizing 1.0 D 0.766 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.