Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3323199916;99917;99918 chr2:178537516;178537515;178537514chr2:179402243;179402242;179402241
N2AB3159094993;94994;94995 chr2:178537516;178537515;178537514chr2:179402243;179402242;179402241
N2A3066392212;92213;92214 chr2:178537516;178537515;178537514chr2:179402243;179402242;179402241
N2B2416672721;72722;72723 chr2:178537516;178537515;178537514chr2:179402243;179402242;179402241
Novex-12429173096;73097;73098 chr2:178537516;178537515;178537514chr2:179402243;179402242;179402241
Novex-22435873297;73298;73299 chr2:178537516;178537515;178537514chr2:179402243;179402242;179402241
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: F
  • RefSeq wild type transcript codon: TTC
  • RefSeq wild type template codon: AAG
  • Domain: Ig-157
  • Domain position: 29
  • Structural Position: 49
  • Q(SASA): 0.11
  • 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
F/L None None 0.959 N 0.497 0.336 0.366466682447 gnomAD-4.0.0 1.59138E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43283E-05 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
F/A 0.8814 likely_pathogenic 0.814 pathogenic -2.873 Highly Destabilizing 0.993 D 0.655 neutral None None None None N
F/C 0.5943 likely_pathogenic 0.5386 ambiguous -1.551 Destabilizing 1.0 D 0.771 deleterious N 0.504042493 None None N
F/D 0.9745 likely_pathogenic 0.9563 pathogenic -2.418 Highly Destabilizing 1.0 D 0.801 deleterious None None None None N
F/E 0.9377 likely_pathogenic 0.8923 pathogenic -2.275 Highly Destabilizing 0.997 D 0.791 deleterious None None None None N
F/G 0.9488 likely_pathogenic 0.9216 pathogenic -3.253 Highly Destabilizing 0.999 D 0.766 deleterious None None None None N
F/H 0.6071 likely_pathogenic 0.5287 ambiguous -1.482 Destabilizing 0.994 D 0.772 deleterious None None None None N
F/I 0.4963 ambiguous 0.4211 ambiguous -1.663 Destabilizing 0.994 D 0.67 neutral N 0.446802344 None None N
F/K 0.8726 likely_pathogenic 0.8204 pathogenic -1.795 Destabilizing 0.998 D 0.795 deleterious None None None None N
F/L 0.9175 likely_pathogenic 0.9021 pathogenic -1.663 Destabilizing 0.959 D 0.497 neutral N 0.400008474 None None N
F/M 0.7169 likely_pathogenic 0.6642 pathogenic -1.264 Destabilizing 0.998 D 0.717 prob.delet. None None None None N
F/N 0.8463 likely_pathogenic 0.7792 pathogenic -1.993 Destabilizing 0.999 D 0.806 deleterious None None None None N
F/P 0.9997 likely_pathogenic 0.9997 pathogenic -2.071 Highly Destabilizing 1.0 D 0.799 deleterious None None None None N
F/Q 0.8094 likely_pathogenic 0.7369 pathogenic -2.081 Highly Destabilizing 0.997 D 0.803 deleterious None None None None N
F/R 0.7779 likely_pathogenic 0.7156 pathogenic -1.075 Destabilizing 0.998 D 0.805 deleterious None None None None N
F/S 0.7261 likely_pathogenic 0.6125 pathogenic -2.734 Highly Destabilizing 0.999 D 0.755 deleterious N 0.426504429 None None N
F/T 0.785 likely_pathogenic 0.6968 pathogenic -2.5 Highly Destabilizing 0.999 D 0.76 deleterious None None None None N
F/V 0.5381 ambiguous 0.4593 ambiguous -2.071 Highly Destabilizing 0.972 D 0.632 neutral N 0.473199511 None None N
F/W 0.6068 likely_pathogenic 0.5628 ambiguous -0.54 Destabilizing 1.0 D 0.697 prob.neutral None None None None N
F/Y 0.1672 likely_benign 0.153 benign -0.872 Destabilizing 0.062 N 0.349 neutral N 0.438449432 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.