Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC671820377;20378;20379 chr2:178727213;178727212;178727211chr2:179591940;179591939;179591938
N2AB640119426;19427;19428 chr2:178727213;178727212;178727211chr2:179591940;179591939;179591938
N2A547416645;16646;16647 chr2:178727213;178727212;178727211chr2:179591940;179591939;179591938
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: F
  • RefSeq wild type transcript codon: TTC
  • RefSeq wild type template codon: AAG
  • Domain: Ig-51
  • Domain position: 52
  • Structural Position: 127
  • Q(SASA): 0.3154
  • 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
F/L None None 0.92 N 0.575 0.284 0.662550749481 gnomAD-4.0.0 1.20033E-06 None None None None N None 0 0 None 0 0 None 0 0 1.31251E-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
F/A 0.8997 likely_pathogenic 0.8853 pathogenic -1.907 Destabilizing 0.973 D 0.715 prob.delet. None None None None N
F/C 0.8331 likely_pathogenic 0.7596 pathogenic -1.095 Destabilizing 1.0 D 0.785 deleterious N 0.509988783 None None N
F/D 0.9668 likely_pathogenic 0.9658 pathogenic -0.175 Destabilizing 0.998 D 0.787 deleterious None None None None N
F/E 0.9692 likely_pathogenic 0.9659 pathogenic -0.07 Destabilizing 0.995 D 0.777 deleterious None None None None N
F/G 0.9606 likely_pathogenic 0.9555 pathogenic -2.247 Highly Destabilizing 0.994 D 0.762 deleterious None None None None N
F/H 0.8636 likely_pathogenic 0.8511 pathogenic -0.526 Destabilizing 1.0 D 0.724 prob.delet. None None None None N
F/I 0.5411 ambiguous 0.4995 ambiguous -0.898 Destabilizing 0.965 D 0.6 neutral D 0.533827548 None None N
F/K 0.9712 likely_pathogenic 0.9694 pathogenic -1.015 Destabilizing 0.996 D 0.777 deleterious None None None None N
F/L 0.9396 likely_pathogenic 0.9392 pathogenic -0.898 Destabilizing 0.92 D 0.575 neutral N 0.517492659 None None N
F/M 0.7555 likely_pathogenic 0.7438 pathogenic -0.735 Destabilizing 0.98 D 0.669 neutral None None None None N
F/N 0.9076 likely_pathogenic 0.9008 pathogenic -1.106 Destabilizing 0.998 D 0.8 deleterious None None None None N
F/P 0.998 likely_pathogenic 0.9979 pathogenic -1.226 Destabilizing 1.0 D 0.797 deleterious None None None None N
F/Q 0.9501 likely_pathogenic 0.9425 pathogenic -1.092 Destabilizing 0.997 D 0.801 deleterious None None None None N
F/R 0.9334 likely_pathogenic 0.9296 pathogenic -0.496 Destabilizing 0.998 D 0.799 deleterious None None None None N
F/S 0.8136 likely_pathogenic 0.7979 pathogenic -1.98 Destabilizing 0.839 D 0.553 neutral D 0.526130785 None None N
F/T 0.8769 likely_pathogenic 0.8628 pathogenic -1.78 Destabilizing 0.994 D 0.766 deleterious None None None None N
F/V 0.5077 ambiguous 0.4552 ambiguous -1.226 Destabilizing 0.35 N 0.487 neutral N 0.501656415 None None N
F/W 0.7323 likely_pathogenic 0.7026 pathogenic 0.01 Stabilizing 1.0 D 0.67 neutral None None None None N
F/Y 0.3359 likely_benign 0.3039 benign -0.227 Destabilizing 0.994 D 0.623 neutral N 0.519666172 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.