Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2815784694;84695;84696 chr2:178561663;178561662;178561661chr2:179426390;179426389;179426388
N2AB2651679771;79772;79773 chr2:178561663;178561662;178561661chr2:179426390;179426389;179426388
N2A2558976990;76991;76992 chr2:178561663;178561662;178561661chr2:179426390;179426389;179426388
N2B1909257499;57500;57501 chr2:178561663;178561662;178561661chr2:179426390;179426389;179426388
Novex-11921757874;57875;57876 chr2:178561663;178561662;178561661chr2:179426390;179426389;179426388
Novex-21928458075;58076;58077 chr2:178561663;178561662;178561661chr2:179426390;179426389;179426388
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: P
  • RefSeq wild type transcript codon: CCT
  • RefSeq wild type template codon: GGA
  • Domain: Fn3-93
  • Domain position: 4
  • Structural Position: 4
  • Q(SASA): 0.3511
  • 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
P/L None None 0.988 D 0.87 0.516 0.740553466771 gnomAD-4.0.0 1.60947E-06 None None None None I None 0 0 None 0 0 None 0 0 0 1.45366E-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
P/A 0.1438 likely_benign 0.1292 benign -1.26 Destabilizing 0.958 D 0.797 deleterious N 0.480939134 None None I
P/C 0.6929 likely_pathogenic 0.6303 pathogenic -0.898 Destabilizing 1.0 D 0.884 deleterious None None None None I
P/D 0.9503 likely_pathogenic 0.918 pathogenic -1.203 Destabilizing 0.995 D 0.843 deleterious None None None None I
P/E 0.7479 likely_pathogenic 0.6628 pathogenic -1.272 Destabilizing 0.991 D 0.827 deleterious None None None None I
P/F 0.7473 likely_pathogenic 0.6897 pathogenic -1.247 Destabilizing 1.0 D 0.906 deleterious None None None None I
P/G 0.7668 likely_pathogenic 0.7216 pathogenic -1.494 Destabilizing 0.991 D 0.833 deleterious None None None None I
P/H 0.574 likely_pathogenic 0.5019 ambiguous -1.019 Destabilizing 0.998 D 0.897 deleterious D 0.531307545 None None I
P/I 0.5386 ambiguous 0.4948 ambiguous -0.746 Destabilizing 0.995 D 0.896 deleterious None None None None I
P/K 0.7769 likely_pathogenic 0.7376 pathogenic -0.938 Destabilizing 0.938 D 0.813 deleterious None None None None I
P/L 0.322 likely_benign 0.2924 benign -0.746 Destabilizing 0.988 D 0.87 deleterious D 0.531054055 None None I
P/M 0.5171 ambiguous 0.4697 ambiguous -0.518 Destabilizing 1.0 D 0.897 deleterious None None None None I
P/N 0.8119 likely_pathogenic 0.7215 pathogenic -0.649 Destabilizing 0.991 D 0.87 deleterious None None None None I
P/Q 0.445 ambiguous 0.3896 ambiguous -0.948 Destabilizing 0.991 D 0.856 deleterious None None None None I
P/R 0.637 likely_pathogenic 0.5804 pathogenic -0.362 Destabilizing 0.142 N 0.645 neutral N 0.500326047 None None I
P/S 0.3432 ambiguous 0.2679 benign -1.095 Destabilizing 0.988 D 0.828 deleterious N 0.482284244 None None I
P/T 0.3599 ambiguous 0.3031 benign -1.067 Destabilizing 0.988 D 0.817 deleterious N 0.496313576 None None I
P/V 0.4201 ambiguous 0.3865 ambiguous -0.883 Destabilizing 0.995 D 0.871 deleterious None None None None I
P/W 0.9247 likely_pathogenic 0.9035 pathogenic -1.321 Destabilizing 1.0 D 0.873 deleterious None None None None I
P/Y 0.7956 likely_pathogenic 0.7461 pathogenic -1.04 Destabilizing 1.0 D 0.915 deleterious None None 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.