Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC687820857;20858;20859 chr2:178725572;178725571;178725570chr2:179590299;179590298;179590297
N2AB656119906;19907;19908 chr2:178725572;178725571;178725570chr2:179590299;179590298;179590297
N2A563417125;17126;17127 chr2:178725572;178725571;178725570chr2:179590299;179590298;179590297
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: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Ig-53
  • Domain position: 25
  • Structural Position: 38
  • Q(SASA): 0.4337
  • 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
E/A rs752107739 -0.622 0.961 D 0.446 0.319 0.513901218509 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
E/A rs752107739 -0.622 0.961 D 0.446 0.319 0.513901218509 gnomAD-3.1.2 1.31E-05 None None None None N None 0 0 0 0 0 None 0 0 2.94E-05 0 0
E/A rs752107739 -0.622 0.961 D 0.446 0.319 0.513901218509 gnomAD-4.0.0 1.66744E-05 None None None None N None 0 0 None 0 0 None 0 0 3.11419E-05 0 0
E/Q rs755499713 -0.085 0.961 N 0.44 0.253 0.340273420219 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.93E-06 0
E/Q rs755499713 -0.085 0.961 N 0.44 0.253 0.340273420219 gnomAD-4.0.0 1.59421E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86261E-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
E/A 0.1809 likely_benign 0.1524 benign -0.64 Destabilizing 0.961 D 0.446 neutral D 0.533155545 None None N
E/C 0.8844 likely_pathogenic 0.8611 pathogenic -0.187 Destabilizing 1.0 D 0.681 prob.neutral None None None None N
E/D 0.2417 likely_benign 0.2238 benign -0.572 Destabilizing 0.98 D 0.396 neutral N 0.485936727 None None N
E/F 0.7762 likely_pathogenic 0.754 pathogenic -0.355 Destabilizing 0.999 D 0.667 neutral None None None None N
E/G 0.294 likely_benign 0.2564 benign -0.886 Destabilizing 0.98 D 0.511 neutral N 0.491723625 None None N
E/H 0.4747 ambiguous 0.4634 ambiguous -0.249 Destabilizing 0.999 D 0.502 neutral None None None None N
E/I 0.3939 ambiguous 0.3724 ambiguous -0.006 Destabilizing 0.999 D 0.659 neutral None None None None N
E/K 0.1547 likely_benign 0.1517 benign 0.116 Stabilizing 0.122 N 0.146 neutral N 0.471760369 None None N
E/L 0.4687 ambiguous 0.4376 ambiguous -0.006 Destabilizing 0.996 D 0.565 neutral None None None None N
E/M 0.5154 ambiguous 0.4859 ambiguous 0.195 Stabilizing 1.0 D 0.65 neutral None None None None N
E/N 0.4229 ambiguous 0.3829 ambiguous -0.322 Destabilizing 0.985 D 0.459 neutral None None None None N
E/P 0.963 likely_pathogenic 0.9648 pathogenic -0.197 Destabilizing 0.999 D 0.541 neutral None None None None N
E/Q 0.133 likely_benign 0.1284 benign -0.276 Destabilizing 0.961 D 0.44 neutral N 0.493165203 None None N
E/R 0.2581 likely_benign 0.2567 benign 0.364 Stabilizing 0.942 D 0.407 neutral None None None None N
E/S 0.2231 likely_benign 0.1924 benign -0.502 Destabilizing 0.97 D 0.404 neutral None None None None N
E/T 0.2238 likely_benign 0.2005 benign -0.299 Destabilizing 0.985 D 0.501 neutral None None None None N
E/V 0.2309 likely_benign 0.2152 benign -0.197 Destabilizing 0.994 D 0.525 neutral D 0.537158642 None None N
E/W 0.9064 likely_pathogenic 0.9071 pathogenic -0.12 Destabilizing 1.0 D 0.67 neutral None None None None N
E/Y 0.6895 likely_pathogenic 0.6723 pathogenic -0.092 Destabilizing 0.999 D 0.649 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.