Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1805154376;54377;54378 chr2:178605026;178605025;178605024chr2:179469753;179469752;179469751
N2AB1641049453;49454;49455 chr2:178605026;178605025;178605024chr2:179469753;179469752;179469751
N2A1548346672;46673;46674 chr2:178605026;178605025;178605024chr2:179469753;179469752;179469751
N2B898627181;27182;27183 chr2:178605026;178605025;178605024chr2:179469753;179469752;179469751
Novex-1911127556;27557;27558 chr2:178605026;178605025;178605024chr2:179469753;179469752;179469751
Novex-2917827757;27758;27759 chr2:178605026;178605025;178605024chr2:179469753;179469752;179469751
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: L
  • RefSeq wild type transcript codon: CTT
  • RefSeq wild type template codon: GAA
  • Domain: Ig-114
  • Domain position: 84
  • Structural Position: 163
  • Q(SASA): 0.4556
  • 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
L/R rs771364277 0.28 0.994 N 0.674 0.567 0.810086806081 gnomAD-2.1.1 4.1E-06 None None None None I None 0 0 None 0 0 None 0 None 0 9.05E-06 0
L/R rs771364277 0.28 0.994 N 0.674 0.567 0.810086806081 gnomAD-4.0.0 1.37559E-06 None None None None I None 0 0 None 0 0 None 0 0 1.8065E-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
L/A 0.5746 likely_pathogenic 0.5609 ambiguous -0.423 Destabilizing 0.97 D 0.494 neutral None None None None I
L/C 0.7403 likely_pathogenic 0.746 pathogenic -0.786 Destabilizing 1.0 D 0.587 neutral None None None None I
L/D 0.9512 likely_pathogenic 0.9384 pathogenic -0.191 Destabilizing 0.999 D 0.693 prob.neutral None None None None I
L/E 0.8287 likely_pathogenic 0.7985 pathogenic -0.287 Destabilizing 0.999 D 0.691 prob.neutral None None None None I
L/F 0.3907 ambiguous 0.3388 benign -0.63 Destabilizing 0.151 N 0.27 neutral N 0.459292504 None None I
L/G 0.8292 likely_pathogenic 0.8104 pathogenic -0.512 Destabilizing 0.996 D 0.668 neutral None None None None I
L/H 0.5763 likely_pathogenic 0.5237 ambiguous 0.07 Stabilizing 1.0 D 0.7 prob.neutral N 0.48886605 None None I
L/I 0.2671 likely_benign 0.2754 benign -0.311 Destabilizing 0.925 D 0.399 neutral N 0.480475853 None None I
L/K 0.634 likely_pathogenic 0.6317 pathogenic -0.306 Destabilizing 0.996 D 0.618 neutral None None None None I
L/M 0.2239 likely_benign 0.2179 benign -0.56 Destabilizing 0.559 D 0.289 neutral None None None None I
L/N 0.7342 likely_pathogenic 0.7064 pathogenic -0.161 Destabilizing 0.999 D 0.698 prob.neutral None None None None I
L/P 0.956 likely_pathogenic 0.9566 pathogenic -0.321 Destabilizing 0.998 D 0.7 prob.neutral N 0.512688263 None None I
L/Q 0.5013 ambiguous 0.4636 ambiguous -0.339 Destabilizing 0.996 D 0.67 neutral None None None None I
L/R 0.5374 ambiguous 0.5334 ambiguous 0.14 Stabilizing 0.994 D 0.674 neutral N 0.505123581 None None I
L/S 0.7297 likely_pathogenic 0.6861 pathogenic -0.545 Destabilizing 0.996 D 0.587 neutral None None None None I
L/T 0.6674 likely_pathogenic 0.6473 pathogenic -0.542 Destabilizing 0.996 D 0.49 neutral None None None None I
L/V 0.2743 likely_benign 0.2783 benign -0.321 Destabilizing 0.835 D 0.449 neutral N 0.459252432 None None I
L/W 0.5972 likely_pathogenic 0.5557 ambiguous -0.652 Destabilizing 1.0 D 0.701 prob.neutral None None None None I
L/Y 0.6418 likely_pathogenic 0.5877 pathogenic -0.412 Destabilizing 0.983 D 0.535 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.