Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2013960640;60641;60642 chr2:178591310;178591309;178591308chr2:179456037;179456036;179456035
N2AB1849855717;55718;55719 chr2:178591310;178591309;178591308chr2:179456037;179456036;179456035
N2A1757152936;52937;52938 chr2:178591310;178591309;178591308chr2:179456037;179456036;179456035
N2B1107433445;33446;33447 chr2:178591310;178591309;178591308chr2:179456037;179456036;179456035
Novex-11119933820;33821;33822 chr2:178591310;178591309;178591308chr2:179456037;179456036;179456035
Novex-21126634021;34022;34023 chr2:178591310;178591309;178591308chr2:179456037;179456036;179456035
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-120
  • Domain position: 60
  • Structural Position: 141
  • Q(SASA): 0.6066
  • 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/R rs1412813943 -0.23 0.959 N 0.353 0.215 0.340032825777 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.89E-06 0
K/R rs1412813943 -0.23 0.959 N 0.353 0.215 0.340032825777 gnomAD-4.0.0 4.7771E-06 None None None None N None 0 0 None 0 0 None 0 0 8.58124E-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 0.396 ambiguous 0.4042 ambiguous -0.31 Destabilizing 0.17 N 0.166 neutral None None None None N
K/C 0.621 likely_pathogenic 0.6293 pathogenic -0.371 Destabilizing 0.999 D 0.479 neutral None None None None N
K/D 0.6054 likely_pathogenic 0.6055 pathogenic -0.723 Destabilizing 0.884 D 0.349 neutral None None None None N
K/E 0.204 likely_benign 0.2065 benign -0.638 Destabilizing 0.92 D 0.37 neutral N 0.47941706 None None N
K/F 0.8082 likely_pathogenic 0.8157 pathogenic -0.247 Destabilizing 0.997 D 0.494 neutral None None None None N
K/G 0.4596 ambiguous 0.4619 ambiguous -0.663 Destabilizing 0.759 D 0.377 neutral None None None None N
K/H 0.2645 likely_benign 0.2545 benign -1.237 Destabilizing 0.991 D 0.433 neutral None None None None N
K/I 0.4352 ambiguous 0.4714 ambiguous 0.594 Stabilizing 0.991 D 0.491 neutral None None None None N
K/L 0.425 ambiguous 0.4386 ambiguous 0.594 Stabilizing 0.939 D 0.412 neutral None None None None N
K/M 0.3137 likely_benign 0.3316 benign 0.695 Stabilizing 0.999 D 0.425 neutral D 0.525229495 None None N
K/N 0.4022 ambiguous 0.4065 ambiguous -0.505 Destabilizing 0.061 N 0.068 neutral N 0.482169364 None None N
K/P 0.7188 likely_pathogenic 0.7169 pathogenic 0.324 Stabilizing 0.991 D 0.414 neutral None None None None N
K/Q 0.123 likely_benign 0.1203 benign -0.645 Destabilizing 0.988 D 0.411 neutral N 0.498290823 None None N
K/R 0.0773 likely_benign 0.0765 benign -0.588 Destabilizing 0.959 D 0.353 neutral N 0.459831222 None None N
K/S 0.3864 ambiguous 0.399 ambiguous -0.977 Destabilizing 0.759 D 0.331 neutral None None None None N
K/T 0.1809 likely_benign 0.1994 benign -0.701 Destabilizing 0.92 D 0.355 neutral N 0.479033058 None None N
K/V 0.3986 ambiguous 0.4284 ambiguous 0.324 Stabilizing 0.939 D 0.441 neutral None None None None N
K/W 0.7293 likely_pathogenic 0.7249 pathogenic -0.242 Destabilizing 0.999 D 0.589 neutral None None None None N
K/Y 0.6528 likely_pathogenic 0.6579 pathogenic 0.14 Stabilizing 0.997 D 0.482 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.