Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2624378952;78953;78954 chr2:178567405;178567404;178567403chr2:179432132;179432131;179432130
N2AB2460274029;74030;74031 chr2:178567405;178567404;178567403chr2:179432132;179432131;179432130
N2A2367571248;71249;71250 chr2:178567405;178567404;178567403chr2:179432132;179432131;179432130
N2B1717851757;51758;51759 chr2:178567405;178567404;178567403chr2:179432132;179432131;179432130
Novex-11730352132;52133;52134 chr2:178567405;178567404;178567403chr2:179432132;179432131;179432130
Novex-21737052333;52334;52335 chr2:178567405;178567404;178567403chr2:179432132;179432131;179432130
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: Ig-137
  • Domain position: 51
  • Structural Position: 125
  • Q(SASA): 0.4369
  • 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/E rs1372864085 None 0.892 N 0.46 0.368 0.283761946502 gnomAD-4.0.0 3.44556E-06 None None None None N None 0 0 None 0 0 None 0 0 3.61131E-06 0 1.67146E-05
K/M rs763231010 0.351 0.995 N 0.596 0.514 0.389904358541 gnomAD-2.1.1 4.17E-06 None None None None N None 0 3.04E-05 None 0 0 None 0 None 0 0 0
K/M rs763231010 0.351 0.995 N 0.596 0.514 0.389904358541 gnomAD-4.0.0 1.61782E-06 None None None None N None 0 2.37982E-05 None 0 0 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 0.5099 ambiguous 0.5235 ambiguous -0.175 Destabilizing 0.845 D 0.447 neutral None None None None N
K/C 0.7051 likely_pathogenic 0.6981 pathogenic -0.314 Destabilizing 0.999 D 0.698 prob.neutral None None None None N
K/D 0.7708 likely_pathogenic 0.7913 pathogenic 0.171 Stabilizing 0.987 D 0.567 neutral None None None None N
K/E 0.2327 likely_benign 0.2517 benign 0.225 Stabilizing 0.892 D 0.46 neutral N 0.490172772 None None N
K/F 0.8374 likely_pathogenic 0.8397 pathogenic -0.141 Destabilizing 0.975 D 0.706 prob.neutral None None None None N
K/G 0.6973 likely_pathogenic 0.7078 pathogenic -0.457 Destabilizing 0.987 D 0.528 neutral None None None None N
K/H 0.3219 likely_benign 0.3211 benign -0.767 Destabilizing 0.997 D 0.593 neutral None None None None N
K/I 0.3472 ambiguous 0.3625 ambiguous 0.511 Stabilizing 0.95 D 0.613 neutral None None None None N
K/L 0.4305 ambiguous 0.4438 ambiguous 0.511 Stabilizing 0.845 D 0.52 neutral None None None None N
K/M 0.2942 likely_benign 0.2994 benign 0.275 Stabilizing 0.995 D 0.596 neutral N 0.495255571 None None N
K/N 0.5826 likely_pathogenic 0.6096 pathogenic 0.012 Stabilizing 0.967 D 0.479 neutral N 0.486999911 None None N
K/P 0.9723 likely_pathogenic 0.9747 pathogenic 0.313 Stabilizing 0.996 D 0.599 neutral None None None None N
K/Q 0.1324 likely_benign 0.1345 benign -0.103 Destabilizing 0.967 D 0.493 neutral D 0.526517574 None None N
K/R 0.0854 likely_benign 0.0855 benign -0.245 Destabilizing 0.056 N 0.26 neutral D 0.524189345 None None N
K/S 0.5236 ambiguous 0.5369 ambiguous -0.566 Destabilizing 0.916 D 0.459 neutral None None None None N
K/T 0.2059 likely_benign 0.217 benign -0.331 Destabilizing 0.892 D 0.499 neutral N 0.483918803 None None N
K/V 0.3421 ambiguous 0.3544 ambiguous 0.313 Stabilizing 0.073 N 0.316 neutral None None None None N
K/W 0.7877 likely_pathogenic 0.7779 pathogenic -0.09 Destabilizing 0.999 D 0.695 prob.neutral None None None None N
K/Y 0.7175 likely_pathogenic 0.7288 pathogenic 0.234 Stabilizing 0.987 D 0.675 prob.neutral 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.