Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC17525479;5480;5481 chr2:178776610;178776609;178776608chr2:179641337;179641336;179641335
N2AB17525479;5480;5481 chr2:178776610;178776609;178776608chr2:179641337;179641336;179641335
N2A17525479;5480;5481 chr2:178776610;178776609;178776608chr2:179641337;179641336;179641335
N2B17065341;5342;5343 chr2:178776610;178776609;178776608chr2:179641337;179641336;179641335
Novex-117065341;5342;5343 chr2:178776610;178776609;178776608chr2:179641337;179641336;179641335
Novex-217065341;5342;5343 chr2:178776610;178776609;178776608chr2:179641337;179641336;179641335
Novex-317525479;5480;5481 chr2:178776610;178776609;178776608chr2:179641337;179641336;179641335

Information

  • RefSeq wild type amino acid: R
  • RefSeq wild type transcript codon: CGT
  • RefSeq wild type template codon: GCA
  • Domain: Ig-8
  • Domain position: 50
  • Structural Position: 122
  • Q(SASA): 0.6148
  • 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
R/C rs1259833413 -0.595 1.0 D 0.731 0.619 0.79222543356 gnomAD-2.1.1 7.98E-06 None None None None I None 0 2.89E-05 None 0 0 None 0 None 0 8.83E-06 0
R/C rs1259833413 -0.595 1.0 D 0.731 0.619 0.79222543356 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
R/C rs1259833413 -0.595 1.0 D 0.731 0.619 0.79222543356 gnomAD-4.0.0 5.57664E-06 None None None None I None 1.33501E-05 1.66722E-05 None 0 0 None 0 0 4.23732E-06 1.09794E-05 1.60041E-05
R/H rs150737838 -1.262 1.0 N 0.734 0.521 None gnomAD-2.1.1 1.63017E-04 None None None None I None 0 1.04543E-03 None 1.93237E-04 1.00543E-04 None 6.53E-05 None 0 2.33E-05 0
R/H rs150737838 -1.262 1.0 N 0.734 0.521 None gnomAD-3.1.2 5.26E-05 None None None None I None 0 2.61849E-04 0 0 1.92382E-04 None 0 0 2.94E-05 2.07039E-04 0
R/H rs150737838 -1.262 1.0 N 0.734 0.521 None 1000 genomes 1.99681E-04 None None None None I None 0 0 None None 0 1E-03 None None None 0 None
R/H rs150737838 -1.262 1.0 N 0.734 0.521 None gnomAD-4.0.0 4.46082E-05 None None None None I None 1.33252E-05 7.83229E-04 None 3.37769E-05 2.22946E-05 None 3.12656E-05 3.29924E-04 1.01695E-05 6.58733E-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
R/A 0.755 likely_pathogenic 0.6393 pathogenic -0.152 Destabilizing 0.999 D 0.603 neutral None None None None I
R/C 0.4258 ambiguous 0.3773 ambiguous -0.271 Destabilizing 1.0 D 0.731 prob.delet. D 0.575979601 None None I
R/D 0.9304 likely_pathogenic 0.8775 pathogenic -0.063 Destabilizing 1.0 D 0.712 prob.delet. None None None None I
R/E 0.6638 likely_pathogenic 0.5315 ambiguous None Stabilizing 0.999 D 0.649 neutral None None None None I
R/F 0.8753 likely_pathogenic 0.8155 pathogenic -0.373 Destabilizing 1.0 D 0.722 prob.delet. None None None None I
R/G 0.6774 likely_pathogenic 0.5551 ambiguous -0.351 Destabilizing 1.0 D 0.605 neutral D 0.574403267 None None I
R/H 0.181 likely_benign 0.1345 benign -0.773 Destabilizing 1.0 D 0.734 prob.delet. N 0.510384599 None None I
R/I 0.6481 likely_pathogenic 0.5971 pathogenic 0.338 Stabilizing 1.0 D 0.741 deleterious None None None None I
R/K 0.2044 likely_benign 0.1659 benign -0.194 Destabilizing 0.998 D 0.493 neutral None None None None I
R/L 0.5179 ambiguous 0.4239 ambiguous 0.338 Stabilizing 1.0 D 0.605 neutral N 0.504986905 None None I
R/M 0.653 likely_pathogenic 0.5807 pathogenic -0.016 Destabilizing 1.0 D 0.735 prob.delet. None None None None I
R/N 0.8162 likely_pathogenic 0.7319 pathogenic 0.088 Stabilizing 1.0 D 0.715 prob.delet. None None None None I
R/P 0.9758 likely_pathogenic 0.9663 pathogenic 0.195 Stabilizing 1.0 D 0.704 prob.neutral D 0.61556904 None None I
R/Q 0.1366 likely_benign 0.1024 benign -0.056 Destabilizing 1.0 D 0.713 prob.delet. None None None None I
R/S 0.7634 likely_pathogenic 0.6528 pathogenic -0.35 Destabilizing 1.0 D 0.693 prob.neutral N 0.475035349 None None I
R/T 0.5367 ambiguous 0.4302 ambiguous -0.151 Destabilizing 1.0 D 0.681 prob.neutral None None None None I
R/V 0.6645 likely_pathogenic 0.5851 pathogenic 0.195 Stabilizing 1.0 D 0.729 prob.delet. None None None None I
R/W 0.5121 ambiguous 0.4192 ambiguous -0.368 Destabilizing 1.0 D 0.745 deleterious None None None None I
R/Y 0.7406 likely_pathogenic 0.6494 pathogenic 0.031 Stabilizing 1.0 D 0.716 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.