Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1402542298;42299;42300 chr2:178634801;178634800;178634799chr2:179499528;179499527;179499526
N2AB1238437375;37376;37377 chr2:178634801;178634800;178634799chr2:179499528;179499527;179499526
N2A1145734594;34595;34596 chr2:178634801;178634800;178634799chr2:179499528;179499527;179499526
N2B496015103;15104;15105 chr2:178634801;178634800;178634799chr2:179499528;179499527;179499526
Novex-1508515478;15479;15480 chr2:178634801;178634800;178634799chr2:179499528;179499527;179499526
Novex-2515215679;15680;15681 chr2:178634801;178634800;178634799chr2:179499528;179499527;179499526
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: Ig-90
  • Domain position: 61
  • Structural Position: 143
  • Q(SASA): 0.7374
  • 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
K/E rs762241231 0.492 0.012 N 0.444 0.125 0.148003135375 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.9E-06 0
K/E rs762241231 0.492 0.012 N 0.444 0.125 0.148003135375 gnomAD-4.0.0 6.84613E-06 None None None None N None 0 0 None 0 0 None 0 0 8.99787E-06 0 0
K/R None None 0.058 N 0.463 0.135 0.193865811164 gnomAD-4.0.0 1.59342E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43612E-05 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 0.5585 ambiguous 0.7196 pathogenic -0.047 Destabilizing 0.075 N 0.382 neutral None None None None N
K/C 0.8526 likely_pathogenic 0.9067 pathogenic -0.153 Destabilizing 0.869 D 0.521 neutral None None None None N
K/D 0.5354 ambiguous 0.669 pathogenic 0.199 Stabilizing 0.039 N 0.389 neutral None None None None N
K/E 0.3943 ambiguous 0.5353 ambiguous 0.225 Stabilizing 0.012 N 0.444 neutral N 0.435539031 None None N
K/F 0.9466 likely_pathogenic 0.9679 pathogenic -0.135 Destabilizing 0.366 N 0.5 neutral None None None None N
K/G 0.531 ambiguous 0.6535 pathogenic -0.29 Destabilizing 0.039 N 0.413 neutral None None None None N
K/H 0.3209 likely_benign 0.4222 ambiguous -0.63 Destabilizing 0.001 N 0.293 neutral None None None None N
K/I 0.8726 likely_pathogenic 0.9182 pathogenic 0.524 Stabilizing 0.303 N 0.547 neutral N 0.446609548 None None N
K/L 0.72 likely_pathogenic 0.8099 pathogenic 0.524 Stabilizing 0.075 N 0.447 neutral None None None None N
K/M 0.5636 ambiguous 0.6882 pathogenic 0.342 Stabilizing 0.869 D 0.42 neutral None None None None N
K/N 0.3382 likely_benign 0.5354 ambiguous 0.229 Stabilizing None N 0.1 neutral N 0.402769651 None None N
K/P 0.9659 likely_pathogenic 0.9746 pathogenic 0.363 Stabilizing 0.366 N 0.513 neutral None None None None N
K/Q 0.2194 likely_benign 0.3033 benign 0.067 Stabilizing 0.058 N 0.522 neutral N 0.438117485 None None N
K/R 0.115 likely_benign 0.1309 benign -0.113 Destabilizing 0.058 N 0.463 neutral N 0.442439529 None None N
K/S 0.507 ambiguous 0.6867 pathogenic -0.315 Destabilizing 0.016 N 0.36 neutral None None None None N
K/T 0.4546 ambiguous 0.6082 pathogenic -0.124 Destabilizing 0.03 N 0.357 neutral N 0.435778886 None None N
K/V 0.8006 likely_pathogenic 0.8629 pathogenic 0.363 Stabilizing 0.366 N 0.477 neutral None None None None N
K/W 0.9447 likely_pathogenic 0.9543 pathogenic -0.109 Destabilizing 0.869 D 0.601 neutral None None None None N
K/Y 0.8106 likely_pathogenic 0.8701 pathogenic 0.229 Stabilizing 0.221 N 0.536 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.