Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC820324832;24833;24834 chr2:178718499;178718498;178718497chr2:179583226;179583225;179583224
N2AB788623881;23882;23883 chr2:178718499;178718498;178718497chr2:179583226;179583225;179583224
N2A695921100;21101;21102 chr2:178718499;178718498;178718497chr2:179583226;179583225;179583224
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: AGC
  • RefSeq wild type template codon: TCG
  • Domain: Ig-67
  • Domain position: 33
  • Structural Position: 47
  • Q(SASA): 0.3213
  • 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 None N 0.153 0.15 0.176091768786 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
S/R None None 0.175 N 0.505 0.285 0.308278614506 gnomAD-4.0.0 1.59154E-06 None None None None N None 0 0 None 0 2.77423E-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
S/A 0.0946 likely_benign 0.0848 benign -0.556 Destabilizing 0.025 N 0.355 neutral None None None None N
S/C 0.1413 likely_benign 0.1184 benign -0.351 Destabilizing 0.001 N 0.343 neutral N 0.504729453 None None N
S/D 0.2869 likely_benign 0.2735 benign -0.061 Destabilizing 0.055 N 0.385 neutral None None None None N
S/E 0.305 likely_benign 0.2997 benign -0.015 Destabilizing 0.104 N 0.382 neutral None None None None N
S/F 0.1756 likely_benign 0.1559 benign -0.542 Destabilizing 0.124 N 0.527 neutral None None None None N
S/G 0.1256 likely_benign 0.1096 benign -0.859 Destabilizing 0.042 N 0.362 neutral N 0.492359189 None None N
S/H 0.1825 likely_benign 0.189 benign -1.233 Destabilizing 0.667 D 0.475 neutral None None None None N
S/I 0.1393 likely_benign 0.1286 benign 0.151 Stabilizing None N 0.331 neutral N 0.4831163 None None N
S/K 0.3078 likely_benign 0.3071 benign -0.514 Destabilizing 0.104 N 0.381 neutral None None None None N
S/L 0.1099 likely_benign 0.0999 benign 0.151 Stabilizing 0.009 N 0.382 neutral None None None None N
S/M 0.171 likely_benign 0.1638 benign 0.181 Stabilizing 0.497 N 0.478 neutral None None None None N
S/N 0.0956 likely_benign 0.0949 benign -0.574 Destabilizing None N 0.153 neutral N 0.498584398 None None N
S/P 0.8482 likely_pathogenic 0.7817 pathogenic -0.049 Destabilizing 0.364 N 0.529 neutral None None None None N
S/Q 0.2696 likely_benign 0.2787 benign -0.582 Destabilizing 0.364 N 0.466 neutral None None None None N
S/R 0.2368 likely_benign 0.2384 benign -0.538 Destabilizing 0.175 N 0.505 neutral N 0.487193968 None None N
S/T 0.063 likely_benign 0.0619 benign -0.536 Destabilizing None N 0.141 neutral N 0.38281602 None None N
S/V 0.1619 likely_benign 0.146 benign -0.049 Destabilizing None N 0.325 neutral None None None None N
S/W 0.2818 likely_benign 0.2676 benign -0.598 Destabilizing 0.958 D 0.539 neutral None None None None N
S/Y 0.1351 likely_benign 0.1269 benign -0.286 Destabilizing 0.004 N 0.335 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.