Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1447343642;43643;43644 chr2:178632589;178632588;178632587chr2:179497316;179497315;179497314
N2AB1283238719;38720;38721 chr2:178632589;178632588;178632587chr2:179497316;179497315;179497314
N2A1190535938;35939;35940 chr2:178632589;178632588;178632587chr2:179497316;179497315;179497314
N2B540816447;16448;16449 chr2:178632589;178632588;178632587chr2:179497316;179497315;179497314
Novex-1553316822;16823;16824 chr2:178632589;178632588;178632587chr2:179497316;179497315;179497314
Novex-2560017023;17024;17025 chr2:178632589;178632588;178632587chr2:179497316;179497315;179497314
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAT
  • RefSeq wild type template codon: CTA
  • Domain: Ig-95
  • Domain position: 66
  • Structural Position: 149
  • Q(SASA): 0.1873
  • 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
D/G None None 1.0 D 0.789 0.863 0.704013138179 gnomAD-4.0.0 4.80129E-06 None None None None N None 0 0 None 0 0 None 0 0 5.25001E-06 0 0
D/H rs397517573 0.276 1.0 D 0.834 0.649 0.700962985929 gnomAD-2.1.1 2.39722E-04 None None None None N None 0 0 None 4.7453E-03 0 None 0 None 0 1.09799E-04 5.6243E-04
D/H rs397517573 0.276 1.0 D 0.834 0.649 0.700962985929 gnomAD-3.1.2 1.1839E-04 None None None None N None 0 0 0 4.03691E-03 0 None 0 0 4.41E-05 0 4.79386E-04
D/H rs397517573 0.276 1.0 D 0.834 0.649 0.700962985929 gnomAD-4.0.0 1.16535E-04 None None None None N None 0 0 None 4.32637E-03 0 None 0 0 3.05201E-05 1.09808E-05 3.68436E-04

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
D/A 0.9456 likely_pathogenic 0.8626 pathogenic 0.783 Stabilizing 1.0 D 0.841 deleterious D 0.751999021 None None N
D/C 0.989 likely_pathogenic 0.9764 pathogenic 0.549 Stabilizing 1.0 D 0.823 deleterious None None None None N
D/E 0.8716 likely_pathogenic 0.7603 pathogenic -0.627 Destabilizing 1.0 D 0.561 neutral D 0.753096497 None None N
D/F 0.9837 likely_pathogenic 0.9622 pathogenic 1.473 Stabilizing 1.0 D 0.85 deleterious None None None None N
D/G 0.9294 likely_pathogenic 0.8507 pathogenic 0.301 Stabilizing 1.0 D 0.789 deleterious D 0.751247667 None None N
D/H 0.9304 likely_pathogenic 0.8788 pathogenic 1.097 Stabilizing 1.0 D 0.834 deleterious D 0.67801749 None None N
D/I 0.9869 likely_pathogenic 0.9658 pathogenic 2.071 Highly Stabilizing 1.0 D 0.843 deleterious None None None None N
D/K 0.987 likely_pathogenic 0.9745 pathogenic 0.491 Stabilizing 1.0 D 0.83 deleterious None None None None N
D/L 0.9765 likely_pathogenic 0.9416 pathogenic 2.071 Highly Stabilizing 1.0 D 0.842 deleterious None None None None N
D/M 0.988 likely_pathogenic 0.97 pathogenic 2.335 Highly Stabilizing 1.0 D 0.809 deleterious None None None None N
D/N 0.7167 likely_pathogenic 0.5662 pathogenic -0.393 Destabilizing 1.0 D 0.793 deleterious D 0.753530745 None None N
D/P 0.9992 likely_pathogenic 0.9985 pathogenic 1.674 Stabilizing 1.0 D 0.843 deleterious None None None None N
D/Q 0.9788 likely_pathogenic 0.9533 pathogenic -0.025 Destabilizing 1.0 D 0.786 deleterious None None None None N
D/R 0.9914 likely_pathogenic 0.9823 pathogenic 0.454 Stabilizing 1.0 D 0.852 deleterious None None None None N
D/S 0.9049 likely_pathogenic 0.7984 pathogenic -0.638 Destabilizing 1.0 D 0.769 deleterious None None None None N
D/T 0.9753 likely_pathogenic 0.9345 pathogenic -0.192 Destabilizing 1.0 D 0.833 deleterious None None None None N
D/V 0.9549 likely_pathogenic 0.8942 pathogenic 1.674 Stabilizing 1.0 D 0.842 deleterious D 0.751237294 None None N
D/W 0.9954 likely_pathogenic 0.9905 pathogenic 1.445 Stabilizing 1.0 D 0.809 deleterious None None None None N
D/Y 0.845 likely_pathogenic 0.7383 pathogenic 1.75 Stabilizing 1.0 D 0.849 deleterious D 0.751323028 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.