Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2224866967;66968;66969 chr2:178581526;178581525;178581524chr2:179446253;179446252;179446251
N2AB2060762044;62045;62046 chr2:178581526;178581525;178581524chr2:179446253;179446252;179446251
N2A1968059263;59264;59265 chr2:178581526;178581525;178581524chr2:179446253;179446252;179446251
N2B1318339772;39773;39774 chr2:178581526;178581525;178581524chr2:179446253;179446252;179446251
Novex-11330840147;40148;40149 chr2:178581526;178581525;178581524chr2:179446253;179446252;179446251
Novex-21337540348;40349;40350 chr2:178581526;178581525;178581524chr2:179446253;179446252;179446251
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: Fn3-49
  • Domain position: 93
  • Structural Position: 125
  • Q(SASA): 0.7699
  • Predicted PPI site: I

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/E rs2047745662 None None N 0.124 0.102 0.107399877778 gnomAD-4.0.0 1.61291E-06 None None None None I None 0 0 None 0 0 None 0 0 0 0 3.05998E-05

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 0.1732 likely_benign 0.1656 benign -0.221 Destabilizing 0.1 N 0.565 neutral N 0.451590167 None None I
D/C 0.6358 likely_pathogenic 0.6038 pathogenic -0.278 Destabilizing 0.96 D 0.757 deleterious None None None None I
D/E 0.13 likely_benign 0.1214 benign -0.054 Destabilizing None N 0.124 neutral N 0.380132713 None None I
D/F 0.7129 likely_pathogenic 0.689 pathogenic -0.262 Destabilizing 0.864 D 0.743 deleterious None None None None I
D/G 0.1289 likely_benign 0.1216 benign -0.364 Destabilizing None N 0.307 neutral N 0.376169688 None None I
D/H 0.4065 ambiguous 0.3982 ambiguous 0.179 Stabilizing 0.856 D 0.531 neutral D 0.527589435 None None I
D/I 0.504 ambiguous 0.4738 ambiguous 0.104 Stabilizing 0.676 D 0.745 deleterious None None None None I
D/K 0.4629 ambiguous 0.4329 ambiguous -0.028 Destabilizing 0.128 N 0.537 neutral None None None None I
D/L 0.426 ambiguous 0.4049 ambiguous 0.104 Stabilizing 0.507 D 0.657 prob.neutral None None None None I
D/M 0.673 likely_pathogenic 0.6297 pathogenic -0.058 Destabilizing 0.96 D 0.713 prob.delet. None None None None I
D/N 0.1455 likely_benign 0.136 benign 0.014 Stabilizing 0.181 N 0.559 neutral N 0.443837475 None None I
D/P 0.738 likely_pathogenic 0.7373 pathogenic 0.015 Stabilizing 0.676 D 0.551 neutral None None None None I
D/Q 0.3289 likely_benign 0.3196 benign 0.021 Stabilizing 0.34 N 0.453 neutral None None None None I
D/R 0.5287 ambiguous 0.515 ambiguous 0.273 Stabilizing 0.507 D 0.699 prob.delet. None None None None I
D/S 0.1522 likely_benign 0.1445 benign -0.208 Destabilizing 0.128 N 0.452 neutral None None None None I
D/T 0.2982 likely_benign 0.2754 benign -0.105 Destabilizing 0.227 N 0.564 neutral None None None None I
D/V 0.2867 likely_benign 0.2728 benign 0.015 Stabilizing 0.437 N 0.617 neutral N 0.483529227 None None I
D/W 0.9196 likely_pathogenic 0.9114 pathogenic -0.202 Destabilizing 0.96 D 0.781 deleterious None None None None I
D/Y 0.3521 ambiguous 0.3492 ambiguous -0.06 Destabilizing 0.828 D 0.735 deleterious D 0.527589435 None None I

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.