Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2254067843;67844;67845 chr2:178579579;178579578;178579577chr2:179444306;179444305;179444304
N2AB2089962920;62921;62922 chr2:178579579;178579578;178579577chr2:179444306;179444305;179444304
N2A1997260139;60140;60141 chr2:178579579;178579578;178579577chr2:179444306;179444305;179444304
N2B1347540648;40649;40650 chr2:178579579;178579578;178579577chr2:179444306;179444305;179444304
Novex-11360041023;41024;41025 chr2:178579579;178579578;178579577chr2:179444306;179444305;179444304
Novex-21366741224;41225;41226 chr2:178579579;178579578;178579577chr2:179444306;179444305;179444304
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTG
  • RefSeq wild type template codon: CAC
  • Domain: Fn3-51
  • Domain position: 90
  • Structural Position: 129
  • Q(SASA): 0.4077
  • 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
V/L None None None N 0.186 0.063 0.277730125212 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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
V/A 0.1357 likely_benign 0.155 benign -1.146 Destabilizing 0.026 N 0.553 neutral N 0.506376296 None None N
V/C 0.6553 likely_pathogenic 0.6798 pathogenic -0.866 Destabilizing 0.934 D 0.697 prob.delet. None None None None N
V/D 0.3253 likely_benign 0.3611 ambiguous -0.841 Destabilizing 0.552 D 0.739 deleterious None None None None N
V/E 0.2043 likely_benign 0.233 benign -0.881 Destabilizing 0.481 N 0.669 prob.neutral N 0.507936521 None None N
V/F 0.1317 likely_benign 0.1497 benign -0.921 Destabilizing 0.233 N 0.65 prob.neutral None None None None N
V/G 0.2382 likely_benign 0.2663 benign -1.408 Destabilizing 0.314 N 0.646 neutral N 0.507936521 None None N
V/H 0.4123 ambiguous 0.4506 ambiguous -0.87 Destabilizing 0.934 D 0.8 deleterious None None None None N
V/I 0.0733 likely_benign 0.076 benign -0.556 Destabilizing 0.034 N 0.55 neutral None None None None N
V/K 0.2129 likely_benign 0.2439 benign -1.025 Destabilizing 0.378 N 0.587 neutral None None None None N
V/L 0.1138 likely_benign 0.1307 benign -0.556 Destabilizing None N 0.186 neutral N 0.405289369 None None N
V/M 0.1007 likely_benign 0.1122 benign -0.485 Destabilizing 0.004 N 0.335 neutral N 0.445983985 None None N
V/N 0.2515 likely_benign 0.2669 benign -0.802 Destabilizing 0.552 D 0.76 deleterious None None None None N
V/P 0.5188 ambiguous 0.591 pathogenic -0.717 Destabilizing 0.789 D 0.717 prob.delet. None None None None N
V/Q 0.2161 likely_benign 0.2473 benign -1.0 Destabilizing 0.378 N 0.709 prob.delet. None None None None N
V/R 0.1871 likely_benign 0.217 benign -0.463 Destabilizing 0.378 N 0.74 deleterious None None None None N
V/S 0.1762 likely_benign 0.1881 benign -1.279 Destabilizing 0.378 N 0.582 neutral None None None None N
V/T 0.1083 likely_benign 0.1127 benign -1.212 Destabilizing 0.147 N 0.611 neutral None None None None N
V/W 0.6343 likely_pathogenic 0.7186 pathogenic -1.046 Destabilizing 0.934 D 0.813 deleterious None None None None N
V/Y 0.4367 ambiguous 0.4824 ambiguous -0.771 Destabilizing 0.552 D 0.648 neutral 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.