Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2661780074;80075;80076 chr2:178566283;178566282;178566281chr2:179431010;179431009;179431008
N2AB2497675151;75152;75153 chr2:178566283;178566282;178566281chr2:179431010;179431009;179431008
N2A2404972370;72371;72372 chr2:178566283;178566282;178566281chr2:179431010;179431009;179431008
N2B1755252879;52880;52881 chr2:178566283;178566282;178566281chr2:179431010;179431009;179431008
Novex-11767753254;53255;53256 chr2:178566283;178566282;178566281chr2:179431010;179431009;179431008
Novex-21774453455;53456;53457 chr2:178566283;178566282;178566281chr2:179431010;179431009;179431008
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Ig-138
  • Domain position: 24
  • Structural Position: 38
  • Q(SASA): 0.8288
  • 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
K/R None None 0.046 N 0.229 0.151 0.247322355667 gnomAD-4.0.0 3.60103E-06 None None None None N None 1.26695E-04 0 None 0 0 None 0 6.17284E-04 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
K/A 0.5093 ambiguous 0.5225 ambiguous -0.063 Destabilizing 0.953 D 0.555 neutral None None None None N
K/C 0.5874 likely_pathogenic 0.6298 pathogenic -0.584 Destabilizing 0.999 D 0.696 prob.neutral None None None None N
K/D 0.8604 likely_pathogenic 0.8651 pathogenic -0.351 Destabilizing 0.993 D 0.65 neutral None None None None N
K/E 0.437 ambiguous 0.4204 ambiguous -0.352 Destabilizing 0.939 D 0.54 neutral N 0.51412428 None None N
K/F 0.7919 likely_pathogenic 0.8021 pathogenic -0.42 Destabilizing 0.999 D 0.659 neutral None None None None N
K/G 0.6457 likely_pathogenic 0.6791 pathogenic -0.187 Destabilizing 0.993 D 0.523 neutral None None None None N
K/H 0.2575 likely_benign 0.27 benign -0.242 Destabilizing 0.998 D 0.664 neutral None None None None N
K/I 0.4308 ambiguous 0.4372 ambiguous 0.185 Stabilizing 0.991 D 0.676 prob.neutral N 0.502909995 None None N
K/L 0.48 ambiguous 0.494 ambiguous 0.185 Stabilizing 0.986 D 0.523 neutral None None None None N
K/M 0.3597 ambiguous 0.3681 ambiguous -0.279 Destabilizing 0.999 D 0.657 neutral None None None None N
K/N 0.6829 likely_pathogenic 0.6863 pathogenic -0.149 Destabilizing 0.982 D 0.63 neutral N 0.49306307 None None N
K/P 0.9689 likely_pathogenic 0.973 pathogenic 0.125 Stabilizing 0.998 D 0.671 neutral None None None None N
K/Q 0.1699 likely_benign 0.1732 benign -0.246 Destabilizing 0.982 D 0.629 neutral D 0.522765193 None None N
K/R 0.0642 likely_benign 0.0664 benign -0.131 Destabilizing 0.046 N 0.229 neutral N 0.454886762 None None N
K/S 0.5417 ambiguous 0.5553 ambiguous -0.475 Destabilizing 0.953 D 0.588 neutral None None None None N
K/T 0.2689 likely_benign 0.258 benign -0.358 Destabilizing 0.991 D 0.609 neutral N 0.471085579 None None N
K/V 0.4177 ambiguous 0.4188 ambiguous 0.125 Stabilizing 0.993 D 0.63 neutral None None None None N
K/W 0.6505 likely_pathogenic 0.7091 pathogenic -0.549 Destabilizing 0.999 D 0.712 prob.delet. None None None None N
K/Y 0.6514 likely_pathogenic 0.6846 pathogenic -0.196 Destabilizing 0.998 D 0.657 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.