Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC22036832;6833;6834 chr2:178775104;178775103;178775102chr2:179639831;179639830;179639829
N2AB22036832;6833;6834 chr2:178775104;178775103;178775102chr2:179639831;179639830;179639829
N2A22036832;6833;6834 chr2:178775104;178775103;178775102chr2:179639831;179639830;179639829
N2B21576694;6695;6696 chr2:178775104;178775103;178775102chr2:179639831;179639830;179639829
Novex-121576694;6695;6696 chr2:178775104;178775103;178775102chr2:179639831;179639830;179639829
Novex-221576694;6695;6696 chr2:178775104;178775103;178775102chr2:179639831;179639830;179639829
Novex-322036832;6833;6834 chr2:178775104;178775103;178775102chr2:179639831;179639830;179639829

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTC
  • RefSeq wild type template codon: CAG
  • Domain: Ig-11
  • Domain position: 30
  • Structural Position: 44
  • Q(SASA): 0.1428
  • Predicted PPI site: N

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/A rs746433556 -2.196 0.334 N 0.507 0.391 0.432826170204 gnomAD-2.1.1 7.97E-06 None None None None N None 1.23062E-04 0 None 0 0 None 0 None 0 0 0
V/A rs746433556 -2.196 0.334 N 0.507 0.391 0.432826170204 gnomAD-3.1.2 5.26E-05 None None None None N None 1.93115E-04 0 0 0 0 None 0 0 0 0 0
V/A rs746433556 -2.196 0.334 N 0.507 0.391 0.432826170204 gnomAD-4.0.0 9.91375E-06 None None None None N None 2.13641E-04 0 None 0 0 None 0 0 0 0 0
V/F rs768181882 -1.443 0.638 D 0.784 0.381 0.675055277813 gnomAD-2.1.1 3.99E-06 None None None None N None 6.15E-05 0 None 0 0 None 0 None 0 0 0
V/F rs768181882 -1.443 0.638 D 0.784 0.381 0.675055277813 gnomAD-4.0.0 2.73647E-06 None None None None N None 1.19524E-04 0 None 0 0 None 0 0 0 0 0
V/I rs768181882 -0.704 0.001 N 0.233 0.094 0.256283259241 gnomAD-2.1.1 3.99E-06 None None None None N None 0 0 None 0 5.45E-05 None 0 None 0 0 0
V/I rs768181882 -0.704 0.001 N 0.233 0.094 0.256283259241 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
V/I rs768181882 -0.704 0.001 N 0.233 0.094 0.256283259241 gnomAD-4.0.0 6.57099E-06 None None None None N None 0 0 None 0 0 None 0 0 1.4699E-05 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 0.3267 likely_benign 0.3447 ambiguous -1.868 Destabilizing 0.334 N 0.507 neutral N 0.424394909 None None N
V/C 0.7527 likely_pathogenic 0.7544 pathogenic -1.079 Destabilizing 0.982 D 0.726 prob.delet. None None None None N
V/D 0.8248 likely_pathogenic 0.8627 pathogenic -2.284 Highly Destabilizing 0.781 D 0.829 deleterious D 0.602578694 None None N
V/E 0.6726 likely_pathogenic 0.7197 pathogenic -2.172 Highly Destabilizing 0.826 D 0.795 deleterious None None None None N
V/F 0.3425 ambiguous 0.3937 ambiguous -1.23 Destabilizing 0.638 D 0.784 deleterious D 0.534449865 None None N
V/G 0.4732 ambiguous 0.5154 ambiguous -2.29 Highly Destabilizing 0.781 D 0.827 deleterious N 0.512649789 None None N
V/H 0.7968 likely_pathogenic 0.8289 pathogenic -2.02 Highly Destabilizing 0.982 D 0.785 deleterious None None None None N
V/I 0.0822 likely_benign 0.0847 benign -0.742 Destabilizing 0.001 N 0.233 neutral N 0.481189091 None None N
V/K 0.6758 likely_pathogenic 0.7212 pathogenic -1.708 Destabilizing 0.826 D 0.787 deleterious None None None None N
V/L 0.2567 likely_benign 0.2878 benign -0.742 Destabilizing 0.034 N 0.453 neutral N 0.501665818 None None N
V/M 0.2375 likely_benign 0.2623 benign -0.486 Destabilizing 0.7 D 0.669 neutral None None None None N
V/N 0.6229 likely_pathogenic 0.6631 pathogenic -1.664 Destabilizing 0.935 D 0.821 deleterious None None None None N
V/P 0.8499 likely_pathogenic 0.8608 pathogenic -1.088 Destabilizing 0.935 D 0.786 deleterious None None None None N
V/Q 0.5645 likely_pathogenic 0.6024 pathogenic -1.692 Destabilizing 0.935 D 0.775 deleterious None None None None N
V/R 0.575 likely_pathogenic 0.6242 pathogenic -1.297 Destabilizing 0.826 D 0.821 deleterious None None None None N
V/S 0.418 ambiguous 0.4462 ambiguous -2.163 Highly Destabilizing 0.826 D 0.781 deleterious None None None None N
V/T 0.3565 ambiguous 0.3729 ambiguous -1.941 Destabilizing 0.399 N 0.639 neutral None None None None N
V/W 0.9215 likely_pathogenic 0.9403 pathogenic -1.663 Destabilizing 0.982 D 0.749 deleterious None None None None N
V/Y 0.7675 likely_pathogenic 0.8056 pathogenic -1.323 Destabilizing 0.826 D 0.763 deleterious None None None None N

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.