Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1670950350;50351;50352 chr2:178612400;178612399;178612398chr2:179477127;179477126;179477125
N2AB1506845427;45428;45429 chr2:178612400;178612399;178612398chr2:179477127;179477126;179477125
N2A1414142646;42647;42648 chr2:178612400;178612399;178612398chr2:179477127;179477126;179477125
N2B764423155;23156;23157 chr2:178612400;178612399;178612398chr2:179477127;179477126;179477125
Novex-1776923530;23531;23532 chr2:178612400;178612399;178612398chr2:179477127;179477126;179477125
Novex-2783623731;23732;23733 chr2:178612400;178612399;178612398chr2:179477127;179477126;179477125
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAG
  • RefSeq wild type template codon: TTC
  • Domain: Fn3-9
  • Domain position: 59
  • Structural Position: 90
  • Q(SASA): 0.5807
  • 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/N rs1244376906 -0.138 0.999 N 0.701 0.241 0.165133752707 gnomAD-2.1.1 3.19E-05 None None None None N None 0 0 None 0 0 None 0 None 0 6.49E-05 0
K/N rs1244376906 -0.138 0.999 N 0.701 0.241 0.165133752707 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
K/N rs1244376906 -0.138 0.999 N 0.701 0.241 0.165133752707 gnomAD-4.0.0 6.58328E-06 None None None None N None 0 0 None 0 0 None 0 0 1.47223E-05 0 0
K/Q rs755961446 -0.037 0.999 N 0.697 0.355 0.165133752707 gnomAD-2.1.1 1.21E-05 None None None None N None 0 0 None 0 0 None 9.81E-05 None 0 0 0
K/Q rs755961446 -0.037 0.999 N 0.697 0.355 0.165133752707 gnomAD-4.0.0 7.96952E-06 None None None None N None 0 0 None 0 0 None 0 0 0 7.1662E-05 0
K/R rs2056499137 None 0.998 N 0.591 0.191 0.194818534648 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 9.41E-05 0 0 0 0
K/R rs2056499137 None 0.998 N 0.591 0.191 0.194818534648 gnomAD-4.0.0 2.56639E-06 None None None None N None 0 0 None 0 0 None 1.5704E-05 0 0 0 2.8516E-05

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 0.8263 likely_pathogenic 0.7952 pathogenic -0.401 Destabilizing 0.996 D 0.574 neutral None None None None N
K/C 0.9187 likely_pathogenic 0.9103 pathogenic -0.439 Destabilizing 1.0 D 0.765 deleterious None None None None N
K/D 0.9656 likely_pathogenic 0.9535 pathogenic 0.147 Stabilizing 1.0 D 0.759 deleterious None None None None N
K/E 0.787 likely_pathogenic 0.7586 pathogenic 0.244 Stabilizing 0.998 D 0.569 neutral N 0.396750965 None None N
K/F 0.9648 likely_pathogenic 0.965 pathogenic -0.139 Destabilizing 0.999 D 0.769 deleterious None None None None N
K/G 0.9313 likely_pathogenic 0.9009 pathogenic -0.732 Destabilizing 1.0 D 0.683 prob.neutral None None None None N
K/H 0.5858 likely_pathogenic 0.5348 ambiguous -0.912 Destabilizing 1.0 D 0.751 deleterious None None None None N
K/I 0.7693 likely_pathogenic 0.8031 pathogenic 0.439 Stabilizing 0.784 D 0.528 neutral None None None None N
K/L 0.7932 likely_pathogenic 0.8107 pathogenic 0.439 Stabilizing 0.983 D 0.572 neutral None None None None N
K/M 0.713 likely_pathogenic 0.7149 pathogenic 0.141 Stabilizing 1.0 D 0.752 deleterious N 0.48254145 None None N
K/N 0.887 likely_pathogenic 0.863 pathogenic -0.207 Destabilizing 0.999 D 0.701 prob.neutral N 0.467198701 None None N
K/P 0.9923 likely_pathogenic 0.9918 pathogenic 0.189 Stabilizing 1.0 D 0.775 deleterious None None None None N
K/Q 0.4228 ambiguous 0.3775 ambiguous -0.247 Destabilizing 0.999 D 0.697 prob.neutral N 0.457869025 None None N
K/R 0.1137 likely_benign 0.1145 benign -0.353 Destabilizing 0.998 D 0.591 neutral N 0.467209686 None None N
K/S 0.8528 likely_pathogenic 0.8063 pathogenic -0.833 Destabilizing 0.999 D 0.623 neutral None None None None N
K/T 0.5545 ambiguous 0.5134 ambiguous -0.536 Destabilizing 0.998 D 0.731 prob.delet. N 0.424440933 None None N
K/V 0.6733 likely_pathogenic 0.6927 pathogenic 0.189 Stabilizing 0.983 D 0.571 neutral None None None None N
K/W 0.9682 likely_pathogenic 0.9658 pathogenic -0.055 Destabilizing 1.0 D 0.761 deleterious None None None None N
K/Y 0.917 likely_pathogenic 0.9112 pathogenic 0.229 Stabilizing 1.0 D 0.767 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.