Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3062592098;92099;92100 chr2:178549849;178549848;178549847chr2:179414576;179414575;179414574
N2AB2898487175;87176;87177 chr2:178549849;178549848;178549847chr2:179414576;179414575;179414574
N2A2805784394;84395;84396 chr2:178549849;178549848;178549847chr2:179414576;179414575;179414574
N2B2156064903;64904;64905 chr2:178549849;178549848;178549847chr2:179414576;179414575;179414574
Novex-12168565278;65279;65280 chr2:178549849;178549848;178549847chr2:179414576;179414575;179414574
Novex-22175265479;65480;65481 chr2:178549849;178549848;178549847chr2:179414576;179414575;179414574
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGG
  • RefSeq wild type template codon: CCC
  • Domain: Fn3-111
  • Domain position: 7
  • Structural Position: 7
  • Q(SASA): 0.2695
  • 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
G/R None None 1.0 N 0.677 0.607 0.586724321019 gnomAD-4.0.0 1.69565E-06 None None None None N None 0 0 None 0 2.80599E-05 None 0 0 0 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
G/A 0.381 ambiguous 0.4515 ambiguous -0.376 Destabilizing 1.0 D 0.638 neutral N 0.473279844 None None N
G/C 0.7105 likely_pathogenic 0.7776 pathogenic -0.887 Destabilizing 1.0 D 0.666 neutral None None None None N
G/D 0.8543 likely_pathogenic 0.8832 pathogenic -0.738 Destabilizing 1.0 D 0.719 prob.delet. None None None None N
G/E 0.8259 likely_pathogenic 0.8603 pathogenic -0.878 Destabilizing 1.0 D 0.704 prob.neutral N 0.495143081 None None N
G/F 0.9268 likely_pathogenic 0.9437 pathogenic -0.955 Destabilizing 1.0 D 0.639 neutral None None None None N
G/H 0.9466 likely_pathogenic 0.9594 pathogenic -0.669 Destabilizing 1.0 D 0.653 neutral None None None None N
G/I 0.8942 likely_pathogenic 0.9091 pathogenic -0.392 Destabilizing 1.0 D 0.649 neutral None None None None N
G/K 0.9428 likely_pathogenic 0.953 pathogenic -1.041 Destabilizing 1.0 D 0.704 prob.neutral None None None None N
G/L 0.874 likely_pathogenic 0.9007 pathogenic -0.392 Destabilizing 1.0 D 0.672 neutral None None None None N
G/M 0.9277 likely_pathogenic 0.9465 pathogenic -0.495 Destabilizing 1.0 D 0.661 neutral None None None None N
G/N 0.8845 likely_pathogenic 0.9053 pathogenic -0.645 Destabilizing 1.0 D 0.701 prob.neutral None None None None N
G/P 0.928 likely_pathogenic 0.9296 pathogenic -0.351 Destabilizing 1.0 D 0.676 prob.neutral None None None None N
G/Q 0.9089 likely_pathogenic 0.9298 pathogenic -0.911 Destabilizing 1.0 D 0.679 prob.neutral None None None None N
G/R 0.9125 likely_pathogenic 0.9298 pathogenic -0.579 Destabilizing 1.0 D 0.677 prob.neutral N 0.496157039 None None N
G/S 0.3915 ambiguous 0.4515 ambiguous -0.796 Destabilizing 1.0 D 0.695 prob.neutral None None None None N
G/T 0.7394 likely_pathogenic 0.773 pathogenic -0.865 Destabilizing 1.0 D 0.702 prob.neutral None None None None N
G/V 0.825 likely_pathogenic 0.8541 pathogenic -0.351 Destabilizing 1.0 D 0.682 prob.neutral N 0.506325257 None None N
G/W 0.9042 likely_pathogenic 0.9183 pathogenic -1.15 Destabilizing 1.0 D 0.664 neutral D 0.524683002 None None N
G/Y 0.8965 likely_pathogenic 0.9185 pathogenic -0.798 Destabilizing 1.0 D 0.634 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.