Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC755922900;22901;22902 chr2:178721988;178721987;178721986chr2:179586715;179586714;179586713
N2AB724221949;21950;21951 chr2:178721988;178721987;178721986chr2:179586715;179586714;179586713
N2A631519168;19169;19170 chr2:178721988;178721987;178721986chr2:179586715;179586714;179586713
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: G
  • RefSeq wild type transcript codon: GGA
  • RefSeq wild type template codon: CCT
  • Domain: Ig-60
  • Domain position: 45
  • Structural Position: 111
  • Q(SASA): 0.5582
  • 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/E rs2078443515 None 1.0 N 0.705 0.332 0.288352970974 gnomAD-4.0.0 1.59178E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85951E-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
G/A 0.3508 ambiguous 0.459 ambiguous -0.23 Destabilizing 0.999 D 0.523 neutral N 0.433449044 None None N
G/C 0.6796 likely_pathogenic 0.7584 pathogenic -0.918 Destabilizing 1.0 D 0.729 prob.delet. None None None None N
G/D 0.8083 likely_pathogenic 0.8645 pathogenic -0.142 Destabilizing 1.0 D 0.683 prob.neutral None None None None N
G/E 0.7596 likely_pathogenic 0.845 pathogenic -0.277 Destabilizing 1.0 D 0.705 prob.neutral N 0.414727211 None None N
G/F 0.8608 likely_pathogenic 0.9142 pathogenic -0.853 Destabilizing 1.0 D 0.753 deleterious None None None None N
G/H 0.7914 likely_pathogenic 0.8878 pathogenic -0.285 Destabilizing 1.0 D 0.696 prob.neutral None None None None N
G/I 0.6449 likely_pathogenic 0.7737 pathogenic -0.372 Destabilizing 1.0 D 0.753 deleterious None None None None N
G/K 0.7978 likely_pathogenic 0.8736 pathogenic -0.591 Destabilizing 1.0 D 0.714 prob.delet. None None None None N
G/L 0.7926 likely_pathogenic 0.8794 pathogenic -0.372 Destabilizing 1.0 D 0.749 deleterious None None None None N
G/M 0.7872 likely_pathogenic 0.8713 pathogenic -0.649 Destabilizing 1.0 D 0.723 prob.delet. None None None None N
G/N 0.6462 likely_pathogenic 0.7624 pathogenic -0.331 Destabilizing 1.0 D 0.667 neutral None None None None N
G/P 0.9581 likely_pathogenic 0.9738 pathogenic -0.296 Destabilizing 1.0 D 0.745 deleterious None None None None N
G/Q 0.653 likely_pathogenic 0.7854 pathogenic -0.516 Destabilizing 1.0 D 0.745 deleterious None None None None N
G/R 0.5919 likely_pathogenic 0.7364 pathogenic -0.256 Destabilizing 0.979 D 0.512 neutral N 0.422848049 None None N
G/S 0.2067 likely_benign 0.3041 benign -0.546 Destabilizing 1.0 D 0.645 neutral None None None None N
G/T 0.4869 ambiguous 0.6339 pathogenic -0.596 Destabilizing 1.0 D 0.712 prob.delet. None None None None N
G/V 0.5436 ambiguous 0.6968 pathogenic -0.296 Destabilizing 1.0 D 0.761 deleterious N 0.489611758 None None N
G/W 0.7354 likely_pathogenic 0.8185 pathogenic -0.992 Destabilizing 1.0 D 0.712 prob.delet. None None None None N
G/Y 0.7903 likely_pathogenic 0.8677 pathogenic -0.659 Destabilizing 1.0 D 0.746 deleterious 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.