Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2663480125;80126;80127 chr2:178566232;178566231;178566230chr2:179430959;179430958;179430957
N2AB2499375202;75203;75204 chr2:178566232;178566231;178566230chr2:179430959;179430958;179430957
N2A2406672421;72422;72423 chr2:178566232;178566231;178566230chr2:179430959;179430958;179430957
N2B1756952930;52931;52932 chr2:178566232;178566231;178566230chr2:179430959;179430958;179430957
Novex-11769453305;53306;53307 chr2:178566232;178566231;178566230chr2:179430959;179430958;179430957
Novex-21776153506;53507;53508 chr2:178566232;178566231;178566230chr2:179430959;179430958;179430957
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Ig-138
  • Domain position: 41
  • Structural Position: 69
  • Q(SASA): 0.341
  • 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
T/I None None 0.939 N 0.294 0.421 0.29385284311 gnomAD-4.0.0 1.59148E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.0248E-05

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
T/A 0.0835 likely_benign 0.0786 benign -0.599 Destabilizing 0.309 N 0.266 neutral N 0.502634197 None None N
T/C 0.3101 likely_benign 0.3032 benign -0.398 Destabilizing 0.996 D 0.337 neutral None None None None N
T/D 0.3405 ambiguous 0.3156 benign 0.177 Stabilizing 0.742 D 0.269 neutral None None None None N
T/E 0.3394 likely_benign 0.3137 benign 0.161 Stabilizing 0.742 D 0.273 neutral None None None None N
T/F 0.3008 likely_benign 0.2759 benign -0.88 Destabilizing 0.984 D 0.406 neutral None None None None N
T/G 0.1407 likely_benign 0.1368 benign -0.809 Destabilizing 0.59 D 0.324 neutral None None None None N
T/H 0.2326 likely_benign 0.2122 benign -0.992 Destabilizing 0.996 D 0.399 neutral None None None None N
T/I 0.2165 likely_benign 0.2015 benign -0.145 Destabilizing 0.939 D 0.294 neutral N 0.459984528 None None N
T/K 0.2117 likely_benign 0.1913 benign -0.471 Destabilizing 0.684 D 0.267 neutral N 0.417708801 None None N
T/L 0.1081 likely_benign 0.1038 benign -0.145 Destabilizing 0.742 D 0.289 neutral None None None None N
T/M 0.1149 likely_benign 0.1092 benign -0.105 Destabilizing 0.996 D 0.311 neutral None None None None N
T/N 0.109 likely_benign 0.1014 benign -0.379 Destabilizing 0.742 D 0.271 neutral None None None None N
T/P 0.0799 likely_benign 0.0769 benign -0.265 Destabilizing 0.001 N 0.184 neutral N 0.404030214 None None N
T/Q 0.2339 likely_benign 0.215 benign -0.481 Destabilizing 0.953 D 0.311 neutral None None None None N
T/R 0.1775 likely_benign 0.1603 benign -0.259 Destabilizing 0.884 D 0.296 neutral N 0.4310621 None None N
T/S 0.0799 likely_benign 0.0785 benign -0.641 Destabilizing 0.012 N 0.162 neutral N 0.403024563 None None N
T/V 0.1682 likely_benign 0.1565 benign -0.265 Destabilizing 0.742 D 0.251 neutral None None None None N
T/W 0.5593 ambiguous 0.5456 ambiguous -0.882 Destabilizing 0.996 D 0.511 neutral None None None None N
T/Y 0.3243 likely_benign 0.2956 benign -0.604 Destabilizing 0.984 D 0.404 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.