Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2256767924;67925;67926 chr2:178579331;178579330;178579329chr2:179444058;179444057;179444056
N2AB2092663001;63002;63003 chr2:178579331;178579330;178579329chr2:179444058;179444057;179444056
N2A1999960220;60221;60222 chr2:178579331;178579330;178579329chr2:179444058;179444057;179444056
N2B1350240729;40730;40731 chr2:178579331;178579330;178579329chr2:179444058;179444057;179444056
Novex-11362741104;41105;41106 chr2:178579331;178579330;178579329chr2:179444058;179444057;179444056
Novex-21369441305;41306;41307 chr2:178579331;178579330;178579329chr2:179444058;179444057;179444056
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAC
  • RefSeq wild type template codon: TTG
  • Domain: Ig-127
  • Domain position: 8
  • Structural Position: 26
  • Q(SASA): 0.5266
  • 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
N/D rs2047147885 None 0.425 N 0.233 0.168 0.110078149338 gnomAD-4.0.0 6.43318E-06 None None None None N None 0 0 None 0 0 None 0 0 1.1548E-05 0 0
N/S None None 0.003 N 0.149 0.073 0.0986583533028 gnomAD-4.0.0 1.37442E-06 None None None None N None 0 0 None 0 0 None 0 0 9.0221E-07 0 1.66406E-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
N/A 0.2898 likely_benign 0.2602 benign -0.754 Destabilizing 0.176 N 0.249 neutral None None None None N
N/C 0.3567 ambiguous 0.3542 ambiguous 0.199 Stabilizing 0.007 N 0.268 neutral None None None None N
N/D 0.291 likely_benign 0.2305 benign 0.067 Stabilizing 0.425 N 0.233 neutral N 0.406337014 None None N
N/E 0.7281 likely_pathogenic 0.6583 pathogenic 0.085 Stabilizing 0.495 N 0.211 neutral None None None None N
N/F 0.7371 likely_pathogenic 0.6867 pathogenic -0.895 Destabilizing 0.981 D 0.387 neutral None None None None N
N/G 0.3723 ambiguous 0.3367 benign -0.998 Destabilizing 0.329 N 0.277 neutral None None None None N
N/H 0.1837 likely_benign 0.1656 benign -0.874 Destabilizing 0.975 D 0.307 neutral N 0.477989255 None None N
N/I 0.3945 ambiguous 0.3489 ambiguous -0.174 Destabilizing 0.642 D 0.421 neutral N 0.496575016 None None N
N/K 0.6205 likely_pathogenic 0.5297 ambiguous -0.063 Destabilizing 0.425 N 0.212 neutral N 0.428560513 None None N
N/L 0.3745 ambiguous 0.3419 ambiguous -0.174 Destabilizing 0.329 N 0.386 neutral None None None None N
N/M 0.5383 ambiguous 0.4999 ambiguous 0.265 Stabilizing 0.981 D 0.339 neutral None None None None N
N/P 0.391 ambiguous 0.3317 benign -0.34 Destabilizing 0.828 D 0.397 neutral None None None None N
N/Q 0.5563 ambiguous 0.502 ambiguous -0.554 Destabilizing 0.828 D 0.251 neutral None None None None N
N/R 0.571 likely_pathogenic 0.4957 ambiguous -0.024 Destabilizing 0.704 D 0.212 neutral None None None None N
N/S 0.0813 likely_benign 0.0785 benign -0.476 Destabilizing 0.003 N 0.149 neutral N 0.420284959 None None N
N/T 0.1611 likely_benign 0.1422 benign -0.282 Destabilizing 0.003 N 0.147 neutral N 0.366855906 None None N
N/V 0.3398 likely_benign 0.309 benign -0.34 Destabilizing 0.495 N 0.379 neutral None None None None N
N/W 0.8986 likely_pathogenic 0.8862 pathogenic -0.748 Destabilizing 0.995 D 0.362 neutral None None None None N
N/Y 0.3045 likely_benign 0.2638 benign -0.539 Destabilizing 0.975 D 0.363 neutral N 0.496748374 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.