Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2980389632;89633;89634 chr2:178553598;178553597;178553596chr2:179418325;179418324;179418323
N2AB2816284709;84710;84711 chr2:178553598;178553597;178553596chr2:179418325;179418324;179418323
N2A2723581928;81929;81930 chr2:178553598;178553597;178553596chr2:179418325;179418324;179418323
N2B2073862437;62438;62439 chr2:178553598;178553597;178553596chr2:179418325;179418324;179418323
Novex-12086362812;62813;62814 chr2:178553598;178553597;178553596chr2:179418325;179418324;179418323
Novex-22093063013;63014;63015 chr2:178553598;178553597;178553596chr2:179418325;179418324;179418323
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGA
  • RefSeq wild type template codon: CCT
  • Domain: Fn3-105
  • Domain position: 70
  • Structural Position: 100
  • Q(SASA): 0.416
  • 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
G/E rs1264984362 None 0.988 N 0.831 0.455 0.425499470309 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 0 4.77555E-04
G/E rs1264984362 None 0.988 N 0.831 0.455 0.425499470309 gnomAD-4.0.0 6.57056E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 4.77555E-04
G/V rs1264984362 None 0.976 N 0.808 0.472 0.672303946791 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
G/V rs1264984362 None 0.976 N 0.808 0.472 0.672303946791 gnomAD-4.0.0 1.23933E-06 None None None None N None 0 0 None 0 0 None 0 0 1.69516E-06 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
G/A 0.1792 likely_benign 0.1495 benign -0.437 Destabilizing 0.067 N 0.473 neutral D 0.524394415 None None N
G/C 0.3065 likely_benign 0.3004 benign -0.88 Destabilizing 0.999 D 0.855 deleterious None None None None N
G/D 0.1861 likely_benign 0.1948 benign -1.005 Destabilizing 0.991 D 0.788 deleterious None None None None N
G/E 0.2295 likely_benign 0.2335 benign -1.157 Destabilizing 0.988 D 0.831 deleterious N 0.482140249 None None N
G/F 0.6803 likely_pathogenic 0.6528 pathogenic -1.082 Destabilizing 0.999 D 0.865 deleterious None None None None N
G/H 0.445 ambiguous 0.4582 ambiguous -0.755 Destabilizing 1.0 D 0.857 deleterious None None None None N
G/I 0.5412 ambiguous 0.4895 ambiguous -0.487 Destabilizing 0.991 D 0.858 deleterious None None None None N
G/K 0.5151 ambiguous 0.5117 ambiguous -1.125 Destabilizing 0.991 D 0.834 deleterious None None None None N
G/L 0.4964 ambiguous 0.4662 ambiguous -0.487 Destabilizing 0.982 D 0.807 deleterious None None None None N
G/M 0.5133 ambiguous 0.4903 ambiguous -0.487 Destabilizing 1.0 D 0.849 deleterious None None None None N
G/N 0.2109 likely_benign 0.2259 benign -0.716 Destabilizing 0.991 D 0.826 deleterious None None None None N
G/P 0.9156 likely_pathogenic 0.8943 pathogenic -0.435 Destabilizing 0.995 D 0.863 deleterious None None None None N
G/Q 0.345 ambiguous 0.3574 ambiguous -1.021 Destabilizing 0.995 D 0.87 deleterious None None None None N
G/R 0.4151 ambiguous 0.4075 ambiguous -0.603 Destabilizing 0.988 D 0.867 deleterious N 0.505777912 None None N
G/S 0.1385 likely_benign 0.1292 benign -0.817 Destabilizing 0.484 N 0.47 neutral None None None None N
G/T 0.2319 likely_benign 0.2135 benign -0.907 Destabilizing 0.982 D 0.801 deleterious None None None None N
G/V 0.3913 ambiguous 0.3426 ambiguous -0.435 Destabilizing 0.976 D 0.808 deleterious N 0.514932172 None None N
G/W 0.5265 ambiguous 0.504 ambiguous -1.269 Destabilizing 1.0 D 0.849 deleterious None None None None N
G/Y 0.5169 ambiguous 0.5195 ambiguous -0.93 Destabilizing 1.0 D 0.868 deleterious 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.