Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC21376634;6635;6636 chr2:178775455;178775454;178775453chr2:179640182;179640181;179640180
N2AB21376634;6635;6636 chr2:178775455;178775454;178775453chr2:179640182;179640181;179640180
N2A21376634;6635;6636 chr2:178775455;178775454;178775453chr2:179640182;179640181;179640180
N2B20916496;6497;6498 chr2:178775455;178775454;178775453chr2:179640182;179640181;179640180
Novex-120916496;6497;6498 chr2:178775455;178775454;178775453chr2:179640182;179640181;179640180
Novex-220916496;6497;6498 chr2:178775455;178775454;178775453chr2:179640182;179640181;179640180
Novex-321376634;6635;6636 chr2:178775455;178775454;178775453chr2:179640182;179640181;179640180

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTC
  • RefSeq wild type template codon: CAG
  • Domain: Ig-10
  • Domain position: 60
  • Structural Position: 139
  • Q(SASA): 0.0834
  • 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/I rs938420145 None 0.997 N 0.503 0.326 0.723809522663 gnomAD-3.1.2 1.31E-05 None None None None N None 0 1.30959E-04 0 0 0 None 0 0 0 0 0
V/I rs938420145 None 0.997 N 0.503 0.326 0.723809522663 gnomAD-4.0.0 6.56797E-06 None None None None N None 0 6.53937E-05 None 0 0 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 0.55 ambiguous 0.6384 pathogenic -2.527 Highly Destabilizing 0.999 D 0.566 neutral N 0.499889212 None None N
V/C 0.9085 likely_pathogenic 0.9172 pathogenic -1.849 Destabilizing 1.0 D 0.734 prob.delet. None None None None N
V/D 0.8896 likely_pathogenic 0.9324 pathogenic -3.391 Highly Destabilizing 1.0 D 0.77 deleterious N 0.502232157 None None N
V/E 0.6985 likely_pathogenic 0.7792 pathogenic -3.157 Highly Destabilizing 1.0 D 0.68 prob.neutral None None None None N
V/F 0.4091 ambiguous 0.4893 ambiguous -1.535 Destabilizing 1.0 D 0.742 deleterious N 0.497772335 None None N
V/G 0.7096 likely_pathogenic 0.7784 pathogenic -3.0 Highly Destabilizing 1.0 D 0.731 prob.delet. D 0.651094739 None None N
V/H 0.8134 likely_pathogenic 0.8678 pathogenic -2.78 Highly Destabilizing 1.0 D 0.784 deleterious None None None None N
V/I 0.1063 likely_benign 0.1146 benign -1.163 Destabilizing 0.997 D 0.503 neutral N 0.443433285 None None N
V/K 0.7383 likely_pathogenic 0.8042 pathogenic -2.23 Highly Destabilizing 1.0 D 0.685 prob.neutral None None None None N
V/L 0.3853 ambiguous 0.4621 ambiguous -1.163 Destabilizing 0.997 D 0.551 neutral N 0.500223409 None None N
V/M 0.3337 likely_benign 0.3874 ambiguous -1.195 Destabilizing 1.0 D 0.694 prob.neutral None None None None N
V/N 0.7153 likely_pathogenic 0.7897 pathogenic -2.64 Highly Destabilizing 1.0 D 0.788 deleterious None None None None N
V/P 0.9954 likely_pathogenic 0.9966 pathogenic -1.601 Destabilizing 1.0 D 0.707 prob.neutral None None None None N
V/Q 0.625 likely_pathogenic 0.7039 pathogenic -2.445 Highly Destabilizing 1.0 D 0.741 deleterious None None None None N
V/R 0.6693 likely_pathogenic 0.7395 pathogenic -1.972 Destabilizing 1.0 D 0.787 deleterious None None None None N
V/S 0.6224 likely_pathogenic 0.7147 pathogenic -3.107 Highly Destabilizing 1.0 D 0.684 prob.neutral None None None None N
V/T 0.5026 ambiguous 0.5772 pathogenic -2.767 Highly Destabilizing 0.999 D 0.599 neutral None None None None N
V/W 0.9544 likely_pathogenic 0.969 pathogenic -2.127 Highly Destabilizing 1.0 D 0.767 deleterious None None None None N
V/Y 0.8134 likely_pathogenic 0.8522 pathogenic -1.85 Destabilizing 1.0 D 0.752 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.