Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2390971950;71951;71952 chr2:178574407;178574406;178574405chr2:179439134;179439133;179439132
N2AB2226867027;67028;67029 chr2:178574407;178574406;178574405chr2:179439134;179439133;179439132
N2A2134164246;64247;64248 chr2:178574407;178574406;178574405chr2:179439134;179439133;179439132
N2B1484444755;44756;44757 chr2:178574407;178574406;178574405chr2:179439134;179439133;179439132
Novex-11496945130;45131;45132 chr2:178574407;178574406;178574405chr2:179439134;179439133;179439132
Novex-21503645331;45332;45333 chr2:178574407;178574406;178574405chr2:179439134;179439133;179439132
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Fn3-61
  • Domain position: 84
  • Structural Position: 117
  • Q(SASA): 0.5145
  • Predicted PPI site: I

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
K/E rs557406526 0.021 0.815 N 0.528 0.172 0.233150807113 gnomAD-2.1.1 4.03E-06 None None None None I None 0 0 None 0 0 None 0 None 4.65E-05 0 0
K/E rs557406526 0.021 0.815 N 0.528 0.172 0.233150807113 gnomAD-4.0.0 1.59184E-06 None None None None I None 0 0 None 0 0 None 1.88359E-05 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
K/A 0.3363 likely_benign 0.3745 ambiguous -0.537 Destabilizing 0.373 N 0.556 neutral None None None None I
K/C 0.5415 ambiguous 0.5646 pathogenic -0.484 Destabilizing 0.996 D 0.649 neutral None None None None I
K/D 0.7231 likely_pathogenic 0.7205 pathogenic -0.207 Destabilizing 0.984 D 0.649 neutral None None None None I
K/E 0.2246 likely_benign 0.2386 benign -0.116 Destabilizing 0.815 D 0.528 neutral N 0.435916133 None None I
K/F 0.661 likely_pathogenic 0.6695 pathogenic -0.285 Destabilizing 0.91 D 0.669 neutral None None None None I
K/G 0.5348 ambiguous 0.5584 ambiguous -0.886 Destabilizing 0.854 D 0.661 neutral None None None None I
K/H 0.3602 ambiguous 0.3689 ambiguous -1.231 Destabilizing 0.996 D 0.617 neutral None None None None I
K/I 0.2281 likely_benign 0.2599 benign 0.357 Stabilizing 0.007 N 0.453 neutral N 0.357860781 None None I
K/L 0.2472 likely_benign 0.273 benign 0.357 Stabilizing 0.004 N 0.401 neutral None None None None I
K/M 0.1891 likely_benign 0.2029 benign 0.268 Stabilizing 0.91 D 0.641 neutral None None None None I
K/N 0.4824 ambiguous 0.5033 ambiguous -0.427 Destabilizing 0.979 D 0.627 neutral N 0.467567192 None None I
K/P 0.4951 ambiguous 0.5578 ambiguous 0.09 Stabilizing 0.984 D 0.656 neutral None None None None I
K/Q 0.1472 likely_benign 0.1534 benign -0.514 Destabilizing 0.979 D 0.632 neutral N 0.425989928 None None I
K/R 0.0853 likely_benign 0.0841 benign -0.62 Destabilizing 0.815 D 0.585 neutral N 0.408481603 None None I
K/S 0.4456 ambiguous 0.475 ambiguous -1.035 Destabilizing 0.854 D 0.534 neutral None None None None I
K/T 0.1864 likely_benign 0.2094 benign -0.742 Destabilizing 0.684 D 0.574 neutral N 0.428702159 None None I
K/V 0.2239 likely_benign 0.2506 benign 0.09 Stabilizing 0.004 N 0.404 neutral None None None None I
K/W 0.7501 likely_pathogenic 0.7437 pathogenic -0.175 Destabilizing 0.996 D 0.663 neutral None None None None I
K/Y 0.5534 ambiguous 0.5544 ambiguous 0.101 Stabilizing 0.953 D 0.67 neutral None None None None I

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.