Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2785383782;83783;83784 chr2:178562575;178562574;178562573chr2:179427302;179427301;179427300
N2AB2621278859;78860;78861 chr2:178562575;178562574;178562573chr2:179427302;179427301;179427300
N2A2528576078;76079;76080 chr2:178562575;178562574;178562573chr2:179427302;179427301;179427300
N2B1878856587;56588;56589 chr2:178562575;178562574;178562573chr2:179427302;179427301;179427300
Novex-11891356962;56963;56964 chr2:178562575;178562574;178562573chr2:179427302;179427301;179427300
Novex-21898057163;57164;57165 chr2:178562575;178562574;178562573chr2:179427302;179427301;179427300
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: Fn3-90
  • Domain position: 88
  • Structural Position: 122
  • Q(SASA): 0.3725
  • 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/K None None 0.123 N 0.455 0.252 0.270001397563 gnomAD-4.0.0 1.59873E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86699E-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 0.2307 likely_benign 0.1803 benign -0.754 Destabilizing 0.03 N 0.474 neutral N 0.47266855 None None N
E/C 0.8787 likely_pathogenic 0.8436 pathogenic -0.445 Destabilizing 0.942 D 0.679 prob.neutral None None None None N
E/D 0.2496 likely_benign 0.2172 benign -1.027 Destabilizing None N 0.243 neutral N 0.47094703 None None N
E/F 0.8208 likely_pathogenic 0.7707 pathogenic 0.018 Stabilizing 0.889 D 0.662 prob.neutral None None None None N
E/G 0.3647 ambiguous 0.2959 benign -1.138 Destabilizing 0.201 N 0.586 neutral N 0.502764675 None None N
E/H 0.6669 likely_pathogenic 0.6013 pathogenic -0.153 Destabilizing 0.653 D 0.479 neutral None None None None N
E/I 0.4539 ambiguous 0.3709 ambiguous 0.299 Stabilizing 0.552 D 0.661 prob.neutral None None None None N
E/K 0.3189 likely_benign 0.2568 benign -0.511 Destabilizing 0.123 N 0.455 neutral N 0.490394411 None None N
E/L 0.5322 ambiguous 0.453 ambiguous 0.299 Stabilizing 0.148 N 0.653 prob.neutral None None None None N
E/M 0.5171 ambiguous 0.4411 ambiguous 0.648 Stabilizing 0.454 N 0.625 neutral None None None None N
E/N 0.4581 ambiguous 0.379 ambiguous -1.103 Destabilizing 0.074 N 0.411 neutral None None None None N
E/P 0.8657 likely_pathogenic 0.7895 pathogenic -0.031 Destabilizing 0.155 N 0.543 neutral None None None None N
E/Q 0.2058 likely_benign 0.1839 benign -0.938 Destabilizing 0.003 N 0.487 neutral N 0.48135551 None None N
E/R 0.5089 ambiguous 0.4353 ambiguous -0.145 Destabilizing 0.156 N 0.457 neutral None None None None N
E/S 0.3071 likely_benign 0.241 benign -1.402 Destabilizing 0.003 N 0.317 neutral None None None None N
E/T 0.3067 likely_benign 0.2338 benign -1.077 Destabilizing 0.121 N 0.469 neutral None None None None N
E/V 0.2687 likely_benign 0.2215 benign -0.031 Destabilizing 0.246 N 0.601 neutral N 0.479545085 None None N
E/W 0.9609 likely_pathogenic 0.9497 pathogenic 0.323 Stabilizing 0.988 D 0.687 prob.delet. None None None None N
E/Y 0.7822 likely_pathogenic 0.7314 pathogenic 0.288 Stabilizing 0.876 D 0.623 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.