Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC31519676;9677;9678 chr2:178767779;178767778;178767777chr2:179632506;179632505;179632504
N2AB31519676;9677;9678 chr2:178767779;178767778;178767777chr2:179632506;179632505;179632504
N2A31519676;9677;9678 chr2:178767779;178767778;178767777chr2:179632506;179632505;179632504
N2B31059538;9539;9540 chr2:178767779;178767778;178767777chr2:179632506;179632505;179632504
Novex-131059538;9539;9540 chr2:178767779;178767778;178767777chr2:179632506;179632505;179632504
Novex-231059538;9539;9540 chr2:178767779;178767778;178767777chr2:179632506;179632505;179632504
Novex-331519676;9677;9678 chr2:178767779;178767778;178767777chr2:179632506;179632505;179632504

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: AGT
  • RefSeq wild type template codon: TCA
  • Domain: Ig-22
  • Domain position: 5
  • Structural Position: 5
  • Q(SASA): 0.2773
  • 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
S/N rs749077031 -0.191 0.961 N 0.39 0.233 0.318540980066 gnomAD-2.1.1 7.97E-06 None None None None N None 0 0 None 0 5.44E-05 None 0 None 0 8.82E-06 0
S/N rs749077031 -0.191 0.961 N 0.39 0.233 0.318540980066 gnomAD-4.0.0 2.05225E-06 None None None None N None 0 0 None 0 2.51902E-05 None 0 0 1.79861E-06 0 0
S/R rs879041803 None 0.989 N 0.429 0.326 0.230578612272 gnomAD-4.0.0 1.59056E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85659E-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
S/A 0.0859 likely_benign 0.1072 benign -0.53 Destabilizing 0.525 D 0.272 neutral None None None None N
S/C 0.2075 likely_benign 0.2218 benign -0.333 Destabilizing 0.028 N 0.231 neutral N 0.494527749 None None N
S/D 0.8265 likely_pathogenic 0.788 pathogenic 0.267 Stabilizing 0.915 D 0.359 neutral None None None None N
S/E 0.818 likely_pathogenic 0.7947 pathogenic 0.303 Stabilizing 0.915 D 0.36 neutral None None None None N
S/F 0.7043 likely_pathogenic 0.6818 pathogenic -0.528 Destabilizing 0.991 D 0.496 neutral None None None None N
S/G 0.1994 likely_benign 0.1972 benign -0.815 Destabilizing 0.771 D 0.376 neutral N 0.510879594 None None N
S/H 0.7441 likely_pathogenic 0.7272 pathogenic -1.2 Destabilizing 0.998 D 0.416 neutral None None None None N
S/I 0.5596 ambiguous 0.5399 ambiguous 0.128 Stabilizing 0.934 D 0.463 neutral N 0.503918272 None None N
S/K 0.9533 likely_pathogenic 0.9517 pathogenic -0.369 Destabilizing 0.915 D 0.348 neutral None None None None N
S/L 0.3368 likely_benign 0.3293 benign 0.128 Stabilizing 0.728 D 0.465 neutral None None None None N
S/M 0.4732 ambiguous 0.4763 ambiguous 0.091 Stabilizing 0.991 D 0.418 neutral None None None None N
S/N 0.3813 ambiguous 0.3255 benign -0.371 Destabilizing 0.961 D 0.39 neutral N 0.510879594 None None N
S/P 0.1608 likely_benign 0.217 benign -0.056 Destabilizing 0.007 N 0.184 neutral None None None None N
S/Q 0.7861 likely_pathogenic 0.7854 pathogenic -0.394 Destabilizing 0.991 D 0.407 neutral None None None None N
S/R 0.9341 likely_pathogenic 0.9274 pathogenic -0.446 Destabilizing 0.989 D 0.429 neutral N 0.496657608 None None N
S/T 0.1574 likely_benign 0.1611 benign -0.384 Destabilizing 0.801 D 0.401 neutral N 0.502013901 None None N
S/V 0.4636 ambiguous 0.4541 ambiguous -0.056 Destabilizing 0.842 D 0.475 neutral None None None None N
S/W 0.7676 likely_pathogenic 0.7422 pathogenic -0.553 Destabilizing 0.998 D 0.602 neutral None None None None N
S/Y 0.5766 likely_pathogenic 0.5213 ambiguous -0.244 Destabilizing 0.991 D 0.491 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.