Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3120293829;93830;93831 chr2:178548022;178548021;178548020chr2:179412749;179412748;179412747
N2AB2956188906;88907;88908 chr2:178548022;178548021;178548020chr2:179412749;179412748;179412747
N2A2863486125;86126;86127 chr2:178548022;178548021;178548020chr2:179412749;179412748;179412747
N2B2213766634;66635;66636 chr2:178548022;178548021;178548020chr2:179412749;179412748;179412747
Novex-12226267009;67010;67011 chr2:178548022;178548021;178548020chr2:179412749;179412748;179412747
Novex-22232967210;67211;67212 chr2:178548022;178548021;178548020chr2:179412749;179412748;179412747
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCT
  • RefSeq wild type template codon: AGA
  • Domain: Fn3-115
  • Domain position: 90
  • Structural Position: 125
  • Q(SASA): 0.5808
  • 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
S/F rs868211733 -0.869 0.612 N 0.469 0.162 0.389904358541 gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
S/F rs868211733 -0.869 0.612 N 0.469 0.162 0.389904358541 gnomAD-3.1.2 1.97E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 0 0 0
S/F rs868211733 -0.869 0.612 N 0.469 0.162 0.389904358541 gnomAD-4.0.0 1.97195E-05 None None None None N None 7.23938E-05 0 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
S/A 0.0784 likely_benign 0.0812 benign -0.27 Destabilizing None N 0.053 neutral N 0.414484855 None None N
S/C 0.134 likely_benign 0.1216 benign -0.462 Destabilizing 0.002 N 0.396 neutral N 0.491926919 None None N
S/D 0.6293 likely_pathogenic 0.5444 ambiguous 0.279 Stabilizing 0.373 N 0.349 neutral None None None None N
S/E 0.7116 likely_pathogenic 0.642 pathogenic 0.184 Stabilizing 0.227 N 0.347 neutral None None None None N
S/F 0.2954 likely_benign 0.2647 benign -1.01 Destabilizing 0.612 D 0.469 neutral N 0.491406844 None None N
S/G 0.0971 likely_benign 0.0883 benign -0.325 Destabilizing 0.001 N 0.124 neutral None None None None N
S/H 0.4961 ambiguous 0.4291 ambiguous -0.64 Destabilizing 0.96 D 0.32 neutral None None None None N
S/I 0.2943 likely_benign 0.265 benign -0.259 Destabilizing 0.507 D 0.48 neutral None None None None N
S/K 0.8581 likely_pathogenic 0.7966 pathogenic -0.338 Destabilizing 0.227 N 0.349 neutral None None None None N
S/L 0.1276 likely_benign 0.1294 benign -0.259 Destabilizing 0.128 N 0.372 neutral None None None None N
S/M 0.2855 likely_benign 0.2786 benign -0.293 Destabilizing 0.96 D 0.323 neutral None None None None N
S/N 0.237 likely_benign 0.2196 benign -0.179 Destabilizing 0.373 N 0.462 neutral None None None None N
S/P 0.3991 ambiguous 0.2998 benign -0.238 Destabilizing 0.612 D 0.395 neutral N 0.448386785 None None N
S/Q 0.6193 likely_pathogenic 0.5748 pathogenic -0.344 Destabilizing 0.676 D 0.378 neutral None None None None N
S/R 0.7701 likely_pathogenic 0.689 pathogenic -0.141 Destabilizing 0.676 D 0.393 neutral None None None None N
S/T 0.0984 likely_benign 0.0942 benign -0.282 Destabilizing 0.181 N 0.415 neutral N 0.390818562 None None N
S/V 0.2456 likely_benign 0.2292 benign -0.238 Destabilizing 0.128 N 0.417 neutral None None None None N
S/W 0.5237 ambiguous 0.438 ambiguous -1.085 Destabilizing 0.96 D 0.603 neutral None None None None N
S/Y 0.2987 likely_benign 0.2595 benign -0.764 Destabilizing 0.828 D 0.471 neutral N 0.491060127 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.