Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1954058843;58844;58845 chr2:178593682;178593681;178593680chr2:179458409;179458408;179458407
N2AB1789953920;53921;53922 chr2:178593682;178593681;178593680chr2:179458409;179458408;179458407
N2A1697251139;51140;51141 chr2:178593682;178593681;178593680chr2:179458409;179458408;179458407
N2B1047531648;31649;31650 chr2:178593682;178593681;178593680chr2:179458409;179458408;179458407
Novex-11060032023;32024;32025 chr2:178593682;178593681;178593680chr2:179458409;179458408;179458407
Novex-21066732224;32225;32226 chr2:178593682;178593681;178593680chr2:179458409;179458408;179458407
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Fn3-29
  • Domain position: 62
  • Structural Position: 92
  • Q(SASA): 0.5793
  • 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
K/I rs2050741869 None 1.0 N 0.812 0.339 0.574056412462 gnomAD-4.0.0 1.59229E-06 None None None None N None 0 0 None 0 2.7835E-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
K/A 0.7532 likely_pathogenic 0.7499 pathogenic -0.414 Destabilizing 0.999 D 0.708 prob.delet. None None None None N
K/C 0.8693 likely_pathogenic 0.8577 pathogenic -0.579 Destabilizing 1.0 D 0.831 deleterious None None None None N
K/D 0.9188 likely_pathogenic 0.9284 pathogenic -0.002 Destabilizing 1.0 D 0.793 deleterious None None None None N
K/E 0.5499 ambiguous 0.5603 ambiguous 0.103 Stabilizing 0.999 D 0.608 neutral N 0.499778398 None None N
K/F 0.9247 likely_pathogenic 0.9254 pathogenic -0.162 Destabilizing 1.0 D 0.801 deleterious None None None None N
K/G 0.8666 likely_pathogenic 0.8796 pathogenic -0.749 Destabilizing 1.0 D 0.749 deleterious None None None None N
K/H 0.5009 ambiguous 0.4922 ambiguous -0.937 Destabilizing 1.0 D 0.751 deleterious None None None None N
K/I 0.624 likely_pathogenic 0.6042 pathogenic 0.437 Stabilizing 1.0 D 0.812 deleterious N 0.465924281 None None N
K/L 0.6562 likely_pathogenic 0.6347 pathogenic 0.437 Stabilizing 1.0 D 0.749 deleterious None None None None N
K/M 0.5159 ambiguous 0.5031 ambiguous 0.09 Stabilizing 1.0 D 0.75 deleterious None None None None N
K/N 0.8253 likely_pathogenic 0.8328 pathogenic -0.417 Destabilizing 1.0 D 0.745 deleterious N 0.513497056 None None N
K/P 0.8804 likely_pathogenic 0.881 pathogenic 0.183 Stabilizing 1.0 D 0.792 deleterious None None None None N
K/Q 0.3352 likely_benign 0.3233 benign -0.43 Destabilizing 1.0 D 0.727 prob.delet. N 0.505416291 None None N
K/R 0.0848 likely_benign 0.0814 benign -0.442 Destabilizing 0.999 D 0.583 neutral N 0.437345859 None None N
K/S 0.8189 likely_pathogenic 0.8212 pathogenic -1.003 Destabilizing 0.999 D 0.677 prob.neutral None None None None N
K/T 0.4462 ambiguous 0.4469 ambiguous -0.696 Destabilizing 1.0 D 0.772 deleterious N 0.424968421 None None N
K/V 0.5809 likely_pathogenic 0.5472 ambiguous 0.183 Stabilizing 1.0 D 0.78 deleterious None None None None N
K/W 0.8892 likely_pathogenic 0.8884 pathogenic -0.099 Destabilizing 1.0 D 0.831 deleterious None None None None N
K/Y 0.8207 likely_pathogenic 0.8299 pathogenic 0.196 Stabilizing 1.0 D 0.788 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.