Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC328610081;10082;10083 chr2:178764659;178764658;178764657chr2:179629386;179629385;179629384
N2AB328610081;10082;10083 chr2:178764659;178764658;178764657chr2:179629386;179629385;179629384
N2A328610081;10082;10083 chr2:178764659;178764658;178764657chr2:179629386;179629385;179629384
N2B32409943;9944;9945 chr2:178764659;178764658;178764657chr2:179629386;179629385;179629384
Novex-132409943;9944;9945 chr2:178764659;178764658;178764657chr2:179629386;179629385;179629384
Novex-232409943;9944;9945 chr2:178764659;178764658;178764657chr2:179629386;179629385;179629384
Novex-3328610081;10082;10083 chr2:178764659;178764658;178764657chr2:179629386;179629385;179629384

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Ig-23
  • Domain position: 48
  • Structural Position: 122
  • Q(SASA): 0.3796
  • 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
K/I rs200052398 0.568 1.0 N 0.797 0.609 0.726026596334 gnomAD-2.1.1 3.98E-06 None None None None N None 0 2.89E-05 None 0 0 None 0 None 0 0 0
K/I rs200052398 0.568 1.0 N 0.797 0.609 0.726026596334 gnomAD-4.0.0 6.84073E-07 None None None None N None 0 2.23634E-05 None 0 0 None 0 0 0 0 0
K/N rs2090032788 None 1.0 N 0.686 0.37 0.243972157842 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07297E-04 0
K/N rs2090032788 None 1.0 N 0.686 0.37 0.243972157842 gnomAD-4.0.0 2.56155E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.68025E-05 0
K/R rs200052398 -0.565 0.999 N 0.523 0.332 None gnomAD-2.1.1 9.91E-05 None None None None N None 1.60218E-04 0 None 0 0 None 3.27E-05 None 0 1.7081E-04 1.38581E-04
K/R rs200052398 -0.565 0.999 N 0.523 0.332 None gnomAD-3.1.2 1.64391E-04 None None None None N None 7.25E-05 0 0 0 0 None 0 0 3.08724E-04 0 4.77555E-04
K/R rs200052398 -0.565 0.999 N 0.523 0.332 None 1000 genomes 3.99361E-04 None None None None N None 8E-04 0 None None 0 1E-03 None None None 0 None
K/R rs200052398 -0.565 0.999 N 0.523 0.332 None gnomAD-4.0.0 2.40393E-04 None None None None N None 1.06672E-04 1.66639E-05 None 0 0 None 0 0 3.12715E-04 1.09808E-05 1.43982E-04
K/T None -1.076 1.0 N 0.718 0.558 0.549504238362 gnomAD-2.1.1 3.98E-06 None None None None N None 0 0 None 0 0 None 0 None 4.62E-05 0 0
K/T None -1.076 1.0 N 0.718 0.558 0.549504238362 gnomAD-4.0.0 4.78851E-06 None None None None N None 0 2.23634E-05 None 0 0 None 1.87196E-05 0 4.4965E-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
K/A 0.9674 likely_pathogenic 0.9766 pathogenic -0.913 Destabilizing 0.999 D 0.639 neutral None None None None N
K/C 0.98 likely_pathogenic 0.9844 pathogenic -0.865 Destabilizing 1.0 D 0.743 deleterious None None None None N
K/D 0.9911 likely_pathogenic 0.9937 pathogenic 0.006 Stabilizing 1.0 D 0.748 deleterious None None None None N
K/E 0.9457 likely_pathogenic 0.9663 pathogenic 0.182 Stabilizing 0.999 D 0.56 neutral N 0.51193721 None None N
K/F 0.9948 likely_pathogenic 0.9958 pathogenic -0.454 Destabilizing 1.0 D 0.771 deleterious None None None None N
K/G 0.9836 likely_pathogenic 0.9874 pathogenic -1.323 Destabilizing 1.0 D 0.686 prob.neutral None None None None N
K/H 0.8068 likely_pathogenic 0.8559 pathogenic -1.465 Destabilizing 1.0 D 0.709 prob.delet. None None None None N
K/I 0.9427 likely_pathogenic 0.9527 pathogenic 0.181 Stabilizing 1.0 D 0.797 deleterious N 0.514280048 None None N
K/L 0.9216 likely_pathogenic 0.9426 pathogenic 0.181 Stabilizing 1.0 D 0.686 prob.neutral None None None None N
K/M 0.8978 likely_pathogenic 0.9166 pathogenic -0.017 Destabilizing 1.0 D 0.7 prob.neutral None None None None N
K/N 0.9734 likely_pathogenic 0.98 pathogenic -0.632 Destabilizing 1.0 D 0.686 prob.neutral N 0.506032827 None None N
K/P 0.9942 likely_pathogenic 0.9954 pathogenic -0.155 Destabilizing 1.0 D 0.752 deleterious None None None None N
K/Q 0.6838 likely_pathogenic 0.7873 pathogenic -0.579 Destabilizing 1.0 D 0.667 neutral N 0.507654563 None None N
K/R 0.1841 likely_benign 0.2376 benign -0.54 Destabilizing 0.999 D 0.523 neutral N 0.502962528 None None N
K/S 0.9671 likely_pathogenic 0.9762 pathogenic -1.423 Destabilizing 0.999 D 0.612 neutral None None None None N
K/T 0.8509 likely_pathogenic 0.891 pathogenic -1.006 Destabilizing 1.0 D 0.718 prob.delet. N 0.505510784 None None N
K/V 0.9276 likely_pathogenic 0.9376 pathogenic -0.155 Destabilizing 1.0 D 0.752 deleterious None None None None N
K/W 0.99 likely_pathogenic 0.9925 pathogenic -0.28 Destabilizing 1.0 D 0.755 deleterious None None None None N
K/Y 0.9738 likely_pathogenic 0.9798 pathogenic 0.002 Stabilizing 1.0 D 0.748 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.