Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1939158396;58397;58398 chr2:178594222;178594221;178594220chr2:179458949;179458948;179458947
N2AB1775053473;53474;53475 chr2:178594222;178594221;178594220chr2:179458949;179458948;179458947
N2A1682350692;50693;50694 chr2:178594222;178594221;178594220chr2:179458949;179458948;179458947
N2B1032631201;31202;31203 chr2:178594222;178594221;178594220chr2:179458949;179458948;179458947
Novex-11045131576;31577;31578 chr2:178594222;178594221;178594220chr2:179458949;179458948;179458947
Novex-21051831777;31778;31779 chr2:178594222;178594221;178594220chr2:179458949;179458948;179458947
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAC
  • RefSeq wild type template codon: CTG
  • Domain: Ig-118
  • Domain position: 1
  • Structural Position: 1
  • Q(SASA): 0.4117
  • 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/N rs377633051 -0.117 0.447 N 0.239 0.219 None gnomAD-2.1.1 4.66E-05 None None None None I None 4.54884E-04 5.69E-05 None 0 0 None 0 None 0 0 0
D/N rs377633051 -0.117 0.447 N 0.239 0.219 None gnomAD-3.1.2 9.21E-05 None None None None I None 3.37985E-04 0 0 0 0 None 0 0 0 0 0
D/N rs377633051 -0.117 0.447 N 0.239 0.219 None gnomAD-4.0.0 1.55E-05 None None None None I None 2.40481E-04 3.34079E-05 None 3.37906E-05 0 None 0 0 3.39105E-06 0 0
D/Y None None 0.996 N 0.578 0.381 0.726185039024 gnomAD-4.0.0 6.84507E-07 None None None None I None 0 0 None 0 0 None 0 0 8.99614E-07 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 0.3803 ambiguous 0.3719 ambiguous -0.126 Destabilizing 0.698 D 0.455 neutral N 0.487677338 None None I
D/C 0.8519 likely_pathogenic 0.8475 pathogenic -0.214 Destabilizing 0.998 D 0.611 neutral None None None None I
D/E 0.3474 ambiguous 0.3393 benign -0.326 Destabilizing 0.058 N 0.253 neutral N 0.492247498 None None I
D/F 0.8436 likely_pathogenic 0.8344 pathogenic -0.085 Destabilizing 0.978 D 0.579 neutral None None None None I
D/G 0.4139 ambiguous 0.3869 ambiguous -0.259 Destabilizing 0.698 D 0.461 neutral N 0.489451765 None None I
D/H 0.5671 likely_pathogenic 0.5621 ambiguous 0.473 Stabilizing 0.997 D 0.485 neutral N 0.490212234 None None I
D/I 0.6353 likely_pathogenic 0.6539 pathogenic 0.168 Stabilizing 0.978 D 0.58 neutral None None None None I
D/K 0.7309 likely_pathogenic 0.7452 pathogenic 0.388 Stabilizing 0.86 D 0.463 neutral None None None None I
D/L 0.6335 likely_pathogenic 0.6374 pathogenic 0.168 Stabilizing 0.956 D 0.573 neutral None None None None I
D/M 0.8432 likely_pathogenic 0.8497 pathogenic 0.004 Stabilizing 0.998 D 0.593 neutral None None None None I
D/N 0.2094 likely_benign 0.2599 benign 0.013 Stabilizing 0.447 N 0.239 neutral N 0.488944786 None None I
D/P 0.8577 likely_pathogenic 0.8651 pathogenic 0.089 Stabilizing 0.978 D 0.483 neutral None None None None I
D/Q 0.619 likely_pathogenic 0.6278 pathogenic 0.041 Stabilizing 0.956 D 0.477 neutral None None None None I
D/R 0.7286 likely_pathogenic 0.7311 pathogenic 0.642 Stabilizing 0.956 D 0.531 neutral None None None None I
D/S 0.2855 likely_benign 0.2814 benign -0.048 Destabilizing 0.16 N 0.25 neutral None None None None I
D/T 0.4907 ambiguous 0.4955 ambiguous 0.069 Stabilizing 0.754 D 0.463 neutral None None None None I
D/V 0.422 ambiguous 0.437 ambiguous 0.089 Stabilizing 0.942 D 0.577 neutral N 0.488944786 None None I
D/W 0.9608 likely_pathogenic 0.9602 pathogenic 0.014 Stabilizing 0.998 D 0.627 neutral None None None None I
D/Y 0.4921 ambiguous 0.482 ambiguous 0.149 Stabilizing 0.996 D 0.578 neutral N 0.490465723 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.