Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1725151976;51977;51978 chr2:178609559;178609558;178609557chr2:179474286;179474285;179474284
N2AB1561047053;47054;47055 chr2:178609559;178609558;178609557chr2:179474286;179474285;179474284
N2A1468344272;44273;44274 chr2:178609559;178609558;178609557chr2:179474286;179474285;179474284
N2B818624781;24782;24783 chr2:178609559;178609558;178609557chr2:179474286;179474285;179474284
Novex-1831125156;25157;25158 chr2:178609559;178609558;178609557chr2:179474286;179474285;179474284
Novex-2837825357;25358;25359 chr2:178609559;178609558;178609557chr2:179474286;179474285;179474284
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTC
  • RefSeq wild type template codon: CAG
  • Domain: Ig-112
  • Domain position: 1
  • Structural Position: 1
  • Q(SASA): 0.6584
  • 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
V/I rs1304051107 -0.788 0.016 N 0.301 0.068 0.416833835346 gnomAD-2.1.1 4.13E-06 None None None None I None 0 2.93E-05 None 0 0 None 0 None 0 0 0
V/I rs1304051107 -0.788 0.016 N 0.301 0.068 0.416833835346 gnomAD-4.0.0 2.06186E-06 None None None None I None 0 4.51182E-05 None 0 0 None 0 0 9.02377E-07 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
V/A 0.7566 likely_pathogenic 0.7653 pathogenic -1.161 Destabilizing 0.834 D 0.597 neutral N 0.502328418 None None I
V/C 0.9584 likely_pathogenic 0.9525 pathogenic -0.904 Destabilizing 0.998 D 0.689 prob.neutral None None None None I
V/D 0.9944 likely_pathogenic 0.9936 pathogenic -0.556 Destabilizing 0.973 D 0.717 prob.delet. N 0.503888643 None None I
V/E 0.9875 likely_pathogenic 0.9851 pathogenic -0.533 Destabilizing 0.979 D 0.681 prob.neutral None None None None I
V/F 0.8763 likely_pathogenic 0.8433 pathogenic -0.779 Destabilizing 0.946 D 0.723 prob.delet. N 0.503541927 None None I
V/G 0.8206 likely_pathogenic 0.8233 pathogenic -1.493 Destabilizing 0.973 D 0.713 prob.delet. N 0.503888643 None None I
V/H 0.9975 likely_pathogenic 0.9967 pathogenic -1.076 Destabilizing 0.998 D 0.69 prob.neutral None None None None I
V/I 0.1331 likely_benign 0.1344 benign -0.356 Destabilizing 0.016 N 0.301 neutral N 0.500768193 None None I
V/K 0.9939 likely_pathogenic 0.9918 pathogenic -0.888 Destabilizing 0.979 D 0.677 prob.neutral None None None None I
V/L 0.7214 likely_pathogenic 0.7039 pathogenic -0.356 Destabilizing 0.263 N 0.531 neutral N 0.501808343 None None I
V/M 0.7671 likely_pathogenic 0.7634 pathogenic -0.429 Destabilizing 0.959 D 0.724 prob.delet. None None None None I
V/N 0.9853 likely_pathogenic 0.9838 pathogenic -0.733 Destabilizing 0.993 D 0.716 prob.delet. None None None None I
V/P 0.9861 likely_pathogenic 0.9786 pathogenic -0.588 Destabilizing 0.993 D 0.692 prob.neutral None None None None I
V/Q 0.9922 likely_pathogenic 0.9906 pathogenic -0.813 Destabilizing 0.993 D 0.685 prob.neutral None None None None I
V/R 0.9898 likely_pathogenic 0.9866 pathogenic -0.562 Destabilizing 0.979 D 0.715 prob.delet. None None None None I
V/S 0.9498 likely_pathogenic 0.9488 pathogenic -1.326 Destabilizing 0.979 D 0.693 prob.neutral None None None None I
V/T 0.8835 likely_pathogenic 0.8875 pathogenic -1.18 Destabilizing 0.87 D 0.711 prob.delet. None None None None I
V/W 0.998 likely_pathogenic 0.997 pathogenic -0.983 Destabilizing 0.998 D 0.711 prob.delet. None None None None I
V/Y 0.9853 likely_pathogenic 0.979 pathogenic -0.645 Destabilizing 0.979 D 0.733 prob.delet. 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.