Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3196496115;96116;96117 chr2:178544339;178544338;178544337chr2:179409066;179409065;179409064
N2AB3032391192;91193;91194 chr2:178544339;178544338;178544337chr2:179409066;179409065;179409064
N2A2939688411;88412;88413 chr2:178544339;178544338;178544337chr2:179409066;179409065;179409064
N2B2289968920;68921;68922 chr2:178544339;178544338;178544337chr2:179409066;179409065;179409064
Novex-12302469295;69296;69297 chr2:178544339;178544338;178544337chr2:179409066;179409065;179409064
Novex-22309169496;69497;69498 chr2:178544339;178544338;178544337chr2:179409066;179409065;179409064
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Fn3-121
  • Domain position: 56
  • Structural Position: 75
  • Q(SASA): 0.4328
  • 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
T/I rs1354236675 -0.122 0.669 N 0.412 0.168 0.44307954383 gnomAD-2.1.1 3.19E-05 None None None None N None 1.14863E-04 0 None 0 0 None 0 None 0 0 0
T/I rs1354236675 -0.122 0.669 N 0.412 0.168 0.44307954383 gnomAD-3.1.2 6.58E-06 None None None None N None 2.42E-05 0 0 0 0 None 0 0 0 0 0
T/I rs1354236675 -0.122 0.669 N 0.412 0.168 0.44307954383 gnomAD-4.0.0 6.57869E-06 None None None None N None 2.41721E-05 0 None 0 0 None 0 0 0 0 0
T/K rs1354236675 None 0.801 N 0.391 0.206 0.450928719235 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
T/K rs1354236675 None 0.801 N 0.391 0.206 0.450928719235 gnomAD-4.0.0 2.47909E-06 None None None None N None 0 0 None 0 0 None 0 0 3.39059E-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
T/A 0.0807 likely_benign 0.0809 benign -0.853 Destabilizing 0.022 N 0.106 neutral N 0.445256053 None None N
T/C 0.3377 likely_benign 0.3661 ambiguous -0.468 Destabilizing 0.998 D 0.422 neutral None None None None N
T/D 0.5405 ambiguous 0.5441 ambiguous -0.261 Destabilizing 0.915 D 0.437 neutral None None None None N
T/E 0.3918 ambiguous 0.4073 ambiguous -0.233 Destabilizing 0.915 D 0.402 neutral None None None None N
T/F 0.2287 likely_benign 0.25 benign -0.77 Destabilizing 0.949 D 0.502 neutral None None None None N
T/G 0.2823 likely_benign 0.2781 benign -1.15 Destabilizing 0.842 D 0.453 neutral None None None None N
T/H 0.3252 likely_benign 0.3378 benign -1.386 Destabilizing 0.998 D 0.476 neutral None None None None N
T/I 0.1387 likely_benign 0.1535 benign -0.143 Destabilizing 0.669 D 0.412 neutral N 0.484062371 None None N
T/K 0.2793 likely_benign 0.2773 benign -0.786 Destabilizing 0.801 D 0.391 neutral N 0.451123233 None None N
T/L 0.094 likely_benign 0.0928 benign -0.143 Destabilizing 0.275 N 0.393 neutral None None None None N
T/M 0.0907 likely_benign 0.0917 benign 0.121 Stabilizing 0.325 N 0.285 neutral None None None None N
T/N 0.1565 likely_benign 0.1579 benign -0.755 Destabilizing 0.991 D 0.433 neutral None None None None N
T/P 0.1741 likely_benign 0.1759 benign -0.346 Destabilizing 0.005 N 0.181 neutral N 0.407353813 None None N
T/Q 0.2746 likely_benign 0.2837 benign -0.853 Destabilizing 0.974 D 0.475 neutral None None None None N
T/R 0.2431 likely_benign 0.2504 benign -0.61 Destabilizing 0.966 D 0.472 neutral N 0.462975023 None None N
T/S 0.1296 likely_benign 0.1344 benign -1.048 Destabilizing 0.454 N 0.417 neutral N 0.456566338 None None N
T/V 0.1022 likely_benign 0.1124 benign -0.346 Destabilizing 0.067 N 0.134 neutral None None None None N
T/W 0.6497 likely_pathogenic 0.6752 pathogenic -0.721 Destabilizing 0.998 D 0.516 neutral None None None None N
T/Y 0.272 likely_benign 0.2981 benign -0.497 Destabilizing 0.974 D 0.503 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.