Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2617478745;78746;78747 chr2:178567612;178567611;178567610chr2:179432339;179432338;179432337
N2AB2453373822;73823;73824 chr2:178567612;178567611;178567610chr2:179432339;179432338;179432337
N2A2360671041;71042;71043 chr2:178567612;178567611;178567610chr2:179432339;179432338;179432337
N2B1710951550;51551;51552 chr2:178567612;178567611;178567610chr2:179432339;179432338;179432337
Novex-11723451925;51926;51927 chr2:178567612;178567611;178567610chr2:179432339;179432338;179432337
Novex-21730152126;52127;52128 chr2:178567612;178567611;178567610chr2:179432339;179432338;179432337
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Fn3-78
  • Domain position: 87
  • Structural Position: 119
  • Q(SASA): 0.8028
  • 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
K/E rs1157744481 None 0.046 N 0.368 0.205 0.171388866994 gnomAD-4.0.0 3.19164E-06 None None None None I None 5.66829E-05 0 None 0 2.78118E-05 None 0 0 0 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 0.2314 likely_benign 0.2201 benign -0.105 Destabilizing 0.953 D 0.661 neutral None None None None I
K/C 0.6198 likely_pathogenic 0.5801 pathogenic -0.273 Destabilizing 0.999 D 0.713 prob.delet. None None None None I
K/D 0.4533 ambiguous 0.4349 ambiguous 0.152 Stabilizing 0.91 D 0.672 neutral None None None None I
K/E 0.139 likely_benign 0.1319 benign 0.185 Stabilizing 0.046 N 0.368 neutral N 0.388378476 None None I
K/F 0.6417 likely_pathogenic 0.5862 pathogenic -0.189 Destabilizing 0.999 D 0.699 prob.neutral None None None None I
K/G 0.3859 ambiguous 0.3668 ambiguous -0.346 Destabilizing 0.976 D 0.632 neutral None None None None I
K/H 0.3052 likely_benign 0.2881 benign -0.615 Destabilizing 0.998 D 0.662 neutral None None None None I
K/I 0.2415 likely_benign 0.217 benign 0.46 Stabilizing 0.991 D 0.71 prob.delet. N 0.490198909 None None I
K/L 0.2298 likely_benign 0.2049 benign 0.46 Stabilizing 0.986 D 0.62 neutral None None None None I
K/M 0.188 likely_benign 0.1694 benign 0.203 Stabilizing 0.999 D 0.651 neutral None None None None I
K/N 0.3293 likely_benign 0.311 benign 0.102 Stabilizing 0.982 D 0.663 neutral N 0.477547303 None None I
K/P 0.3503 ambiguous 0.3545 ambiguous 0.301 Stabilizing 0.993 D 0.691 prob.neutral None None None None I
K/Q 0.1158 likely_benign 0.113 benign -0.027 Destabilizing 0.964 D 0.667 neutral N 0.493660502 None None I
K/R 0.0887 likely_benign 0.086 benign -0.14 Destabilizing 0.1 N 0.355 neutral N 0.457297057 None None I
K/S 0.3184 likely_benign 0.298 benign -0.43 Destabilizing 0.953 D 0.653 neutral None None None None I
K/T 0.1586 likely_benign 0.1523 benign -0.23 Destabilizing 0.982 D 0.653 neutral N 0.489332118 None None I
K/V 0.2144 likely_benign 0.1958 benign 0.301 Stabilizing 0.993 D 0.655 neutral None None None None I
K/W 0.7547 likely_pathogenic 0.7047 pathogenic -0.176 Destabilizing 0.999 D 0.685 prob.neutral None None None None I
K/Y 0.5369 ambiguous 0.4902 ambiguous 0.161 Stabilizing 0.998 D 0.71 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.