Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3321099853;99854;99855 chr2:178537579;178537578;178537577chr2:179402306;179402305;179402304
N2AB3156994930;94931;94932 chr2:178537579;178537578;178537577chr2:179402306;179402305;179402304
N2A3064292149;92150;92151 chr2:178537579;178537578;178537577chr2:179402306;179402305;179402304
N2B2414572658;72659;72660 chr2:178537579;178537578;178537577chr2:179402306;179402305;179402304
Novex-12427073033;73034;73035 chr2:178537579;178537578;178537577chr2:179402306;179402305;179402304
Novex-22433773234;73235;73236 chr2:178537579;178537578;178537577chr2:179402306;179402305;179402304
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTG
  • RefSeq wild type template codon: CAC
  • Domain: Ig-157
  • Domain position: 8
  • Structural Position: 23
  • Q(SASA): 0.2062
  • 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/G rs1482941539 -1.871 0.898 N 0.411 0.172 0.724417562041 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.48E-05 0
V/M None None 0.993 N 0.36 0.19 0.340992353424 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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 0.0996 likely_benign 0.1037 benign -0.758 Destabilizing 0.007 N 0.146 neutral N 0.397949604 None None N
V/C 0.7483 likely_pathogenic 0.7983 pathogenic -0.819 Destabilizing 0.048 N 0.27 neutral None None None None N
V/D 0.4913 ambiguous 0.5775 pathogenic -0.191 Destabilizing 0.992 D 0.459 neutral None None None None N
V/E 0.3273 likely_benign 0.3596 ambiguous -0.274 Destabilizing 0.88 D 0.413 neutral N 0.424517343 None None N
V/F 0.2565 likely_benign 0.3593 ambiguous -0.764 Destabilizing 0.989 D 0.319 neutral None None None None N
V/G 0.2719 likely_benign 0.3469 ambiguous -0.944 Destabilizing 0.898 D 0.411 neutral N 0.50586929 None None N
V/H 0.6787 likely_pathogenic 0.7578 pathogenic -0.37 Destabilizing 0.999 D 0.459 neutral None None None None N
V/I 0.088 likely_benign 0.1002 benign -0.402 Destabilizing 0.309 N 0.386 neutral None None None None N
V/K 0.3922 ambiguous 0.3988 ambiguous -0.564 Destabilizing 0.955 D 0.404 neutral None None None None N
V/L 0.2481 likely_benign 0.3241 benign -0.402 Destabilizing 0.252 N 0.421 neutral N 0.466521468 None None N
V/M 0.171 likely_benign 0.2246 benign -0.414 Destabilizing 0.993 D 0.36 neutral N 0.505695932 None None N
V/N 0.3294 likely_benign 0.3895 ambiguous -0.358 Destabilizing 0.865 D 0.461 neutral None None None None N
V/P 0.5567 ambiguous 0.606 pathogenic -0.484 Destabilizing 0.865 D 0.426 neutral None None None None N
V/Q 0.3744 ambiguous 0.4122 ambiguous -0.582 Destabilizing 0.968 D 0.428 neutral None None None None N
V/R 0.3522 ambiguous 0.3636 ambiguous -0.035 Destabilizing 0.989 D 0.459 neutral None None None None N
V/S 0.1829 likely_benign 0.2045 benign -0.847 Destabilizing 0.777 D 0.391 neutral None None None None N
V/T 0.1429 likely_benign 0.1511 benign -0.82 Destabilizing 0.738 D 0.311 neutral None None None None N
V/W 0.9063 likely_pathogenic 0.9464 pathogenic -0.814 Destabilizing 1.0 D 0.576 neutral None None None None N
V/Y 0.7151 likely_pathogenic 0.7883 pathogenic -0.527 Destabilizing 0.996 D 0.321 neutral 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.