Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2229767114;67115;67116 chr2:178580490;178580489;178580488chr2:179445217;179445216;179445215
N2AB2065662191;62192;62193 chr2:178580490;178580489;178580488chr2:179445217;179445216;179445215
N2A1972959410;59411;59412 chr2:178580490;178580489;178580488chr2:179445217;179445216;179445215
N2B1323239919;39920;39921 chr2:178580490;178580489;178580488chr2:179445217;179445216;179445215
Novex-11335740294;40295;40296 chr2:178580490;178580489;178580488chr2:179445217;179445216;179445215
Novex-21342440495;40496;40497 chr2:178580490;178580489;178580488chr2:179445217;179445216;179445215
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-126
  • Domain position: 33
  • Structural Position: 50
  • Q(SASA): 0.1407
  • 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/N rs1013098448 None 1.0 D 0.739 0.436 0.180583059064 gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
K/N rs1013098448 None 1.0 D 0.739 0.436 0.180583059064 gnomAD-4.0.0 6.57583E-06 None None None None N None 2.41336E-05 0 None 0 0 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
K/A 0.9914 likely_pathogenic 0.9906 pathogenic -0.912 Destabilizing 0.999 D 0.646 neutral None None None None N
K/C 0.9766 likely_pathogenic 0.9699 pathogenic -0.865 Destabilizing 1.0 D 0.816 deleterious None None None None N
K/D 0.9984 likely_pathogenic 0.9984 pathogenic -0.172 Destabilizing 1.0 D 0.799 deleterious None None None None N
K/E 0.9918 likely_pathogenic 0.9906 pathogenic 0.018 Stabilizing 0.999 D 0.557 neutral D 0.526652147 None None N
K/F 0.9912 likely_pathogenic 0.9894 pathogenic -0.329 Destabilizing 1.0 D 0.834 deleterious None None None None N
K/G 0.9945 likely_pathogenic 0.9941 pathogenic -1.343 Destabilizing 1.0 D 0.757 deleterious None None None None N
K/H 0.8902 likely_pathogenic 0.8709 pathogenic -1.439 Destabilizing 1.0 D 0.773 deleterious None None None None N
K/I 0.9647 likely_pathogenic 0.9558 pathogenic 0.248 Stabilizing 1.0 D 0.843 deleterious D 0.525384699 None None N
K/L 0.9367 likely_pathogenic 0.915 pathogenic 0.248 Stabilizing 1.0 D 0.757 deleterious None None None None N
K/M 0.9264 likely_pathogenic 0.916 pathogenic -0.009 Destabilizing 1.0 D 0.765 deleterious None None None None N
K/N 0.9942 likely_pathogenic 0.994 pathogenic -0.796 Destabilizing 1.0 D 0.739 prob.delet. D 0.526398657 None None N
K/P 0.9972 likely_pathogenic 0.9971 pathogenic -0.11 Destabilizing 1.0 D 0.808 deleterious None None None None N
K/Q 0.914 likely_pathogenic 0.8936 pathogenic -0.69 Destabilizing 1.0 D 0.727 prob.delet. D 0.525891678 None None N
K/R 0.2174 likely_benign 0.1801 benign -0.693 Destabilizing 0.999 D 0.579 neutral N 0.462736914 None None N
K/S 0.9955 likely_pathogenic 0.995 pathogenic -1.536 Destabilizing 0.999 D 0.607 neutral None None None None N
K/T 0.9848 likely_pathogenic 0.9833 pathogenic -1.103 Destabilizing 1.0 D 0.771 deleterious D 0.526145168 None None N
K/V 0.955 likely_pathogenic 0.9444 pathogenic -0.11 Destabilizing 1.0 D 0.81 deleterious None None None None N
K/W 0.9949 likely_pathogenic 0.9924 pathogenic -0.189 Destabilizing 1.0 D 0.817 deleterious None None None None N
K/Y 0.9751 likely_pathogenic 0.9691 pathogenic 0.083 Stabilizing 1.0 D 0.823 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.