Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2208266469;66470;66471 chr2:178582125;178582124;178582123chr2:179446852;179446851;179446850
N2AB2044161546;61547;61548 chr2:178582125;178582124;178582123chr2:179446852;179446851;179446850
N2A1951458765;58766;58767 chr2:178582125;178582124;178582123chr2:179446852;179446851;179446850
N2B1301739274;39275;39276 chr2:178582125;178582124;178582123chr2:179446852;179446851;179446850
Novex-11314239649;39650;39651 chr2:178582125;178582124;178582123chr2:179446852;179446851;179446850
Novex-21320939850;39851;39852 chr2:178582125;178582124;178582123chr2:179446852;179446851;179446850
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAT
  • RefSeq wild type template codon: CTA
  • Domain: Fn3-48
  • Domain position: 28
  • Structural Position: 30
  • Q(SASA): 0.2406
  • 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
D/G None None 0.963 N 0.689 0.581 0.467416895013 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
D/A 0.9512 likely_pathogenic 0.8383 pathogenic -0.258 Destabilizing 0.978 D 0.71 prob.delet. N 0.493716228 None None N
D/C 0.992 likely_pathogenic 0.9703 pathogenic 0.102 Stabilizing 0.999 D 0.78 deleterious None None None None N
D/E 0.9482 likely_pathogenic 0.8635 pathogenic -0.695 Destabilizing 0.963 D 0.495 neutral N 0.493689775 None None N
D/F 0.995 likely_pathogenic 0.9843 pathogenic -0.52 Destabilizing 0.968 D 0.783 deleterious None None None None N
D/G 0.9232 likely_pathogenic 0.7948 pathogenic -0.521 Destabilizing 0.963 D 0.689 prob.neutral N 0.520912291 None None N
D/H 0.9656 likely_pathogenic 0.9011 pathogenic -0.912 Destabilizing 0.994 D 0.799 deleterious N 0.51093511 None None N
D/I 0.9897 likely_pathogenic 0.9551 pathogenic 0.398 Stabilizing 0.983 D 0.804 deleterious None None None None N
D/K 0.9882 likely_pathogenic 0.9637 pathogenic 0.005 Stabilizing 0.983 D 0.799 deleterious None None None None N
D/L 0.9854 likely_pathogenic 0.9537 pathogenic 0.398 Stabilizing 0.968 D 0.766 deleterious None None None None N
D/M 0.994 likely_pathogenic 0.9773 pathogenic 0.851 Stabilizing 0.999 D 0.781 deleterious None None None None N
D/N 0.3538 ambiguous 0.1993 benign -0.257 Destabilizing 0.989 D 0.745 deleterious N 0.467965424 None None N
D/P 0.9912 likely_pathogenic 0.9789 pathogenic 0.204 Stabilizing 0.997 D 0.811 deleterious None None None None N
D/Q 0.9862 likely_pathogenic 0.9535 pathogenic -0.19 Destabilizing 0.992 D 0.784 deleterious None None None None N
D/R 0.9884 likely_pathogenic 0.9636 pathogenic -0.104 Destabilizing 0.992 D 0.822 deleterious None None None None N
D/S 0.7385 likely_pathogenic 0.4835 ambiguous -0.415 Destabilizing 0.983 D 0.743 deleterious None None None None N
D/T 0.8659 likely_pathogenic 0.6551 pathogenic -0.204 Destabilizing 0.992 D 0.794 deleterious None None None None N
D/V 0.9724 likely_pathogenic 0.8963 pathogenic 0.204 Stabilizing 0.978 D 0.775 deleterious N 0.519644843 None None N
D/W 0.9989 likely_pathogenic 0.9967 pathogenic -0.544 Destabilizing 0.998 D 0.781 deleterious None None None None N
D/Y 0.9602 likely_pathogenic 0.8822 pathogenic -0.32 Destabilizing 0.085 N 0.557 neutral D 0.53243318 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.