Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC791723974;23975;23976 chr2:178719743;178719742;178719741chr2:179584470;179584469;179584468
N2AB760023023;23024;23025 chr2:178719743;178719742;178719741chr2:179584470;179584469;179584468
N2A667320242;20243;20244 chr2:178719743;178719742;178719741chr2:179584470;179584469;179584468
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Ig-64
  • Domain position: 29
  • Structural Position: 43
  • Q(SASA): 0.7516
  • 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
E/K rs1288323003 0.801 0.37 N 0.373 0.28 0.318252033908 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 5.57E-05 None 0 None 0 0 0
E/K rs1288323003 0.801 0.37 N 0.373 0.28 0.318252033908 gnomAD-4.0.0 2.05276E-06 None None None None I None 0 0 None 0 7.5582E-05 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
E/A 0.1566 likely_benign 0.1714 benign -0.044 Destabilizing 0.37 N 0.42 neutral N 0.484264432 None None I
E/C 0.8967 likely_pathogenic 0.9028 pathogenic -0.111 Destabilizing 1.0 D 0.705 prob.neutral None None None None I
E/D 0.1531 likely_benign 0.161 benign -0.257 Destabilizing 0.989 D 0.482 neutral N 0.49830331 None None I
E/F 0.772 likely_pathogenic 0.7805 pathogenic -0.024 Destabilizing 0.999 D 0.661 neutral None None None None I
E/G 0.2448 likely_benign 0.2551 benign -0.179 Destabilizing 0.978 D 0.612 neutral D 0.523234874 None None I
E/H 0.4978 ambiguous 0.5259 ambiguous 0.511 Stabilizing 1.0 D 0.483 neutral None None None None I
E/I 0.3815 ambiguous 0.3942 ambiguous 0.256 Stabilizing 0.998 D 0.667 neutral None None None None I
E/K 0.1692 likely_benign 0.1815 benign 0.502 Stabilizing 0.37 N 0.373 neutral N 0.503736715 None None I
E/L 0.411 ambiguous 0.4298 ambiguous 0.256 Stabilizing 0.995 D 0.604 neutral None None None None I
E/M 0.4949 ambiguous 0.5172 ambiguous 0.077 Stabilizing 1.0 D 0.644 neutral None None None None I
E/N 0.3082 likely_benign 0.3255 benign 0.206 Stabilizing 0.998 D 0.503 neutral None None None None I
E/P 0.3637 ambiguous 0.3925 ambiguous 0.175 Stabilizing 0.998 D 0.56 neutral None None None None I
E/Q 0.1482 likely_benign 0.1584 benign 0.228 Stabilizing 0.994 D 0.467 neutral D 0.527536294 None None I
E/R 0.2838 likely_benign 0.3028 benign 0.72 Stabilizing 0.99 D 0.495 neutral None None None None I
E/S 0.2308 likely_benign 0.2396 benign 0.072 Stabilizing 0.967 D 0.517 neutral None None None None I
E/T 0.2737 likely_benign 0.2903 benign 0.192 Stabilizing 0.983 D 0.551 neutral None None None None I
E/V 0.2206 likely_benign 0.2325 benign 0.175 Stabilizing 0.994 D 0.561 neutral N 0.492520093 None None I
E/W 0.9227 likely_pathogenic 0.9285 pathogenic 0.051 Stabilizing 1.0 D 0.727 prob.delet. None None None None I
E/Y 0.6409 likely_pathogenic 0.6589 pathogenic 0.212 Stabilizing 0.999 D 0.641 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.