Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2884286749;86750;86751 chr2:178559608;178559607;178559606chr2:179424335;179424334;179424333
N2AB2720181826;81827;81828 chr2:178559608;178559607;178559606chr2:179424335;179424334;179424333
N2A2627479045;79046;79047 chr2:178559608;178559607;178559606chr2:179424335;179424334;179424333
N2B1977759554;59555;59556 chr2:178559608;178559607;178559606chr2:179424335;179424334;179424333
Novex-11990259929;59930;59931 chr2:178559608;178559607;178559606chr2:179424335;179424334;179424333
Novex-21996960130;60131;60132 chr2:178559608;178559607;178559606chr2:179424335;179424334;179424333
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: Ig-144
  • Domain position: 88
  • Structural Position: 177
  • Q(SASA): 0.3205
  • 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/L None None 0.997 D 0.754 0.698 0.798602079453 gnomAD-4.0.0 4.80129E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25001E-06 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 0.9732 likely_pathogenic 0.9771 pathogenic -2.066 Highly Destabilizing 0.999 D 0.741 deleterious D 0.618518335 None None N
V/C 0.9907 likely_pathogenic 0.9919 pathogenic -1.843 Destabilizing 1.0 D 0.814 deleterious None None None None N
V/D 0.9982 likely_pathogenic 0.9986 pathogenic -2.504 Highly Destabilizing 1.0 D 0.801 deleterious D 0.619123748 None None N
V/E 0.9956 likely_pathogenic 0.9965 pathogenic -2.417 Highly Destabilizing 1.0 D 0.789 deleterious None None None None N
V/F 0.9813 likely_pathogenic 0.9832 pathogenic -1.506 Destabilizing 1.0 D 0.833 deleterious D 0.618518335 None None N
V/G 0.9697 likely_pathogenic 0.9757 pathogenic -2.472 Highly Destabilizing 1.0 D 0.75 deleterious D 0.619123748 None None N
V/H 0.9991 likely_pathogenic 0.9992 pathogenic -1.991 Destabilizing 1.0 D 0.77 deleterious None None None None N
V/I 0.1708 likely_benign 0.1698 benign -0.995 Destabilizing 0.997 D 0.725 prob.delet. N 0.509042456 None None N
V/K 0.9976 likely_pathogenic 0.998 pathogenic -1.767 Destabilizing 1.0 D 0.792 deleterious None None None None N
V/L 0.955 likely_pathogenic 0.9575 pathogenic -0.995 Destabilizing 0.997 D 0.754 deleterious D 0.616500292 None None N
V/M 0.9525 likely_pathogenic 0.9563 pathogenic -0.982 Destabilizing 1.0 D 0.847 deleterious None None None None N
V/N 0.9907 likely_pathogenic 0.9932 pathogenic -1.833 Destabilizing 1.0 D 0.804 deleterious None None None None N
V/P 0.9962 likely_pathogenic 0.9966 pathogenic -1.322 Destabilizing 1.0 D 0.813 deleterious None None None None N
V/Q 0.997 likely_pathogenic 0.9976 pathogenic -1.919 Destabilizing 1.0 D 0.815 deleterious None None None None N
V/R 0.9957 likely_pathogenic 0.9964 pathogenic -1.305 Destabilizing 1.0 D 0.807 deleterious None None None None N
V/S 0.9844 likely_pathogenic 0.9885 pathogenic -2.416 Highly Destabilizing 1.0 D 0.767 deleterious None None None None N
V/T 0.9584 likely_pathogenic 0.9685 pathogenic -2.208 Highly Destabilizing 0.999 D 0.785 deleterious None None None None N
V/W 0.9998 likely_pathogenic 0.9998 pathogenic -1.804 Destabilizing 1.0 D 0.756 deleterious None None None None N
V/Y 0.9969 likely_pathogenic 0.9973 pathogenic -1.502 Destabilizing 1.0 D 0.84 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.