Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC17335422;5423;5424 chr2:178776667;178776666;178776665chr2:179641394;179641393;179641392
N2AB17335422;5423;5424 chr2:178776667;178776666;178776665chr2:179641394;179641393;179641392
N2A17335422;5423;5424 chr2:178776667;178776666;178776665chr2:179641394;179641393;179641392
N2B16875284;5285;5286 chr2:178776667;178776666;178776665chr2:179641394;179641393;179641392
Novex-116875284;5285;5286 chr2:178776667;178776666;178776665chr2:179641394;179641393;179641392
Novex-216875284;5285;5286 chr2:178776667;178776666;178776665chr2:179641394;179641393;179641392
Novex-317335422;5423;5424 chr2:178776667;178776666;178776665chr2:179641394;179641393;179641392

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACG
  • RefSeq wild type template codon: TGC
  • Domain: Ig-8
  • Domain position: 31
  • Structural Position: 43
  • Q(SASA): 0.558
  • 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
T/A rs759175898 -0.343 0.999 N 0.554 0.543 0.302459207581 gnomAD-2.1.1 1.2E-05 None None None None I None 0 0 None 0 5.46E-05 None 3.27E-05 None 0 8.83E-06 0
T/A rs759175898 -0.343 0.999 N 0.554 0.543 0.302459207581 gnomAD-4.0.0 4.78868E-06 None None None None I None 0 0 None 0 0 None 0 0 2.69788E-06 3.47794E-05 1.6559E-05
T/K rs367700246 -0.346 1.0 N 0.689 0.587 0.466655310336 gnomAD-2.1.1 3.99E-06 None None None None I None 0 0 None 0 5.46E-05 None 0 None 0 0 0
T/K rs367700246 -0.346 1.0 N 0.689 0.587 0.466655310336 gnomAD-4.0.0 6.84097E-07 None None None None I None 0 0 None 0 2.52131E-05 None 0 0 0 0 0
T/M rs367700246 0.23 1.0 N 0.556 0.608 None gnomAD-2.1.1 2.7641E-04 None None None None I None 0 3.39117E-04 None 4.15298E-03 0 None 9.8E-05 None 0 1.08804E-04 8.32639E-04
T/M rs367700246 0.23 1.0 N 0.556 0.608 None gnomAD-3.1.2 1.31408E-04 None None None None I None 0 0 0 4.61095E-03 0 None 0 0 2.94E-05 4.1425E-04 0
T/M rs367700246 0.23 1.0 N 0.556 0.608 None gnomAD-4.0.0 1.3507E-04 None None None None I None 0 2.33357E-04 None 4.5602E-03 4.45911E-05 None 0 0 3.2203E-05 7.68504E-05 3.52101E-04

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
T/A 0.1865 likely_benign 0.1831 benign -0.54 Destabilizing 0.999 D 0.554 neutral N 0.503803822 None None I
T/C 0.8947 likely_pathogenic 0.8569 pathogenic -0.251 Destabilizing 1.0 D 0.552 neutral None None None None I
T/D 0.8185 likely_pathogenic 0.7675 pathogenic -0.18 Destabilizing 1.0 D 0.683 prob.neutral None None None None I
T/E 0.7654 likely_pathogenic 0.7231 pathogenic -0.233 Destabilizing 1.0 D 0.689 prob.neutral None None None None I
T/F 0.835 likely_pathogenic 0.8118 pathogenic -0.8 Destabilizing 1.0 D 0.673 neutral None None None None I
T/G 0.5067 ambiguous 0.4317 ambiguous -0.736 Destabilizing 1.0 D 0.69 prob.neutral None None None None I
T/H 0.7373 likely_pathogenic 0.6852 pathogenic -1.051 Destabilizing 1.0 D 0.62 neutral None None None None I
T/I 0.8119 likely_pathogenic 0.8442 pathogenic -0.13 Destabilizing 1.0 D 0.651 neutral None None None None I
T/K 0.8245 likely_pathogenic 0.7866 pathogenic -0.691 Destabilizing 1.0 D 0.689 prob.neutral N 0.444137673 None None I
T/L 0.395 ambiguous 0.3793 ambiguous -0.13 Destabilizing 0.999 D 0.625 neutral None None None None I
T/M 0.2926 likely_benign 0.2929 benign 0.161 Stabilizing 1.0 D 0.556 neutral N 0.515238233 None None I
T/N 0.3136 likely_benign 0.2902 benign -0.451 Destabilizing 1.0 D 0.714 prob.delet. None None None None I
T/P 0.7454 likely_pathogenic 0.8318 pathogenic -0.236 Destabilizing 1.0 D 0.628 neutral N 0.492987588 None None I
T/Q 0.5949 likely_pathogenic 0.5528 ambiguous -0.677 Destabilizing 1.0 D 0.629 neutral None None None None I
T/R 0.756 likely_pathogenic 0.7052 pathogenic -0.374 Destabilizing 1.0 D 0.631 neutral N 0.473998295 None None I
T/S 0.207 likely_benign 0.1818 benign -0.653 Destabilizing 0.999 D 0.586 neutral N 0.491038541 None None I
T/V 0.5799 likely_pathogenic 0.6172 pathogenic -0.236 Destabilizing 0.999 D 0.627 neutral None None None None I
T/W 0.9673 likely_pathogenic 0.9606 pathogenic -0.783 Destabilizing 1.0 D 0.644 neutral None None None None I
T/Y 0.8487 likely_pathogenic 0.8147 pathogenic -0.552 Destabilizing 1.0 D 0.656 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.