Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2217466745;66746;66747 chr2:178581748;178581747;178581746chr2:179446475;179446474;179446473
N2AB2053361822;61823;61824 chr2:178581748;178581747;178581746chr2:179446475;179446474;179446473
N2A1960659041;59042;59043 chr2:178581748;178581747;178581746chr2:179446475;179446474;179446473
N2B1310939550;39551;39552 chr2:178581748;178581747;178581746chr2:179446475;179446474;179446473
Novex-11323439925;39926;39927 chr2:178581748;178581747;178581746chr2:179446475;179446474;179446473
Novex-21330140126;40127;40128 chr2:178581748;178581747;178581746chr2:179446475;179446474;179446473
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: AGT
  • RefSeq wild type template codon: TCA
  • Domain: Fn3-49
  • Domain position: 19
  • Structural Position: 21
  • Q(SASA): 0.1672
  • 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
S/N None None 0.892 N 0.531 0.171 0.218112801441 gnomAD-4.0.0 6.87091E-07 None None None None N None 0 0 None 0 0 None 0 0 9.01962E-07 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
S/A 0.1324 likely_benign 0.1257 benign -0.939 Destabilizing 0.693 D 0.438 neutral None None None None N
S/C 0.1263 likely_benign 0.1188 benign -0.853 Destabilizing 0.999 D 0.738 prob.delet. N 0.502705904 None None N
S/D 0.7788 likely_pathogenic 0.7872 pathogenic -1.176 Destabilizing 0.916 D 0.522 neutral None None None None N
S/E 0.7995 likely_pathogenic 0.8193 pathogenic -1.09 Destabilizing 0.916 D 0.531 neutral None None None None N
S/F 0.2377 likely_benign 0.2314 benign -0.915 Destabilizing 0.987 D 0.78 deleterious None None None None N
S/G 0.2445 likely_benign 0.2438 benign -1.236 Destabilizing 0.892 D 0.502 neutral N 0.479575219 None None N
S/H 0.4358 ambiguous 0.4445 ambiguous -1.557 Destabilizing 0.999 D 0.734 prob.delet. None None None None N
S/I 0.2369 likely_benign 0.2293 benign -0.227 Destabilizing 0.967 D 0.723 prob.delet. N 0.511747617 None None N
S/K 0.8474 likely_pathogenic 0.8667 pathogenic -0.634 Destabilizing 0.916 D 0.525 neutral None None None None N
S/L 0.1412 likely_benign 0.1425 benign -0.227 Destabilizing 0.845 D 0.621 neutral None None None None N
S/M 0.2078 likely_benign 0.2102 benign -0.177 Destabilizing 0.999 D 0.735 prob.delet. None None None None N
S/N 0.3156 likely_benign 0.3099 benign -0.92 Destabilizing 0.892 D 0.531 neutral N 0.497471598 None None N
S/P 0.9647 likely_pathogenic 0.9674 pathogenic -0.432 Destabilizing 0.987 D 0.707 prob.neutral None None None None N
S/Q 0.6483 likely_pathogenic 0.6804 pathogenic -0.989 Destabilizing 0.987 D 0.647 neutral None None None None N
S/R 0.7952 likely_pathogenic 0.8128 pathogenic -0.633 Destabilizing 0.967 D 0.717 prob.delet. N 0.507725877 None None N
S/T 0.0966 likely_benign 0.0911 benign -0.789 Destabilizing 0.025 N 0.423 neutral N 0.424203204 None None N
S/V 0.2473 likely_benign 0.2441 benign -0.432 Destabilizing 0.95 D 0.681 prob.neutral None None None None N
S/W 0.4446 ambiguous 0.4335 ambiguous -0.974 Destabilizing 0.999 D 0.767 deleterious None None None None N
S/Y 0.2386 likely_benign 0.2368 benign -0.638 Destabilizing 0.996 D 0.773 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.