Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2353870837;70838;70839 chr2:178575520;178575519;178575518chr2:179440247;179440246;179440245
N2AB2189765914;65915;65916 chr2:178575520;178575519;178575518chr2:179440247;179440246;179440245
N2A2097063133;63134;63135 chr2:178575520;178575519;178575518chr2:179440247;179440246;179440245
N2B1447343642;43643;43644 chr2:178575520;178575519;178575518chr2:179440247;179440246;179440245
Novex-11459844017;44018;44019 chr2:178575520;178575519;178575518chr2:179440247;179440246;179440245
Novex-21466544218;44219;44220 chr2:178575520;178575519;178575518chr2:179440247;179440246;179440245
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: AGC
  • RefSeq wild type template codon: TCG
  • Domain: Fn3-59
  • Domain position: 7
  • Structural Position: 7
  • Q(SASA): 0.5108
  • 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/T rs778696920 -0.286 0.472 N 0.297 0.09 0.163833314356 gnomAD-2.1.1 4.03E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 0 0
S/T rs778696920 -0.286 0.472 N 0.297 0.09 0.163833314356 gnomAD-4.0.0 1.36849E-06 None None None None N None 0 0 None 0 0 None 0 0 0 2.31895E-05 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 0.0907 likely_benign 0.0952 benign -0.626 Destabilizing 0.543 D 0.399 neutral None None None None N
S/C 0.1098 likely_benign 0.1233 benign -0.507 Destabilizing 0.994 D 0.425 neutral N 0.466609071 None None N
S/D 0.4393 ambiguous 0.4689 ambiguous -0.198 Destabilizing 0.004 N 0.061 neutral None None None None N
S/E 0.6032 likely_pathogenic 0.6333 pathogenic -0.198 Destabilizing 0.373 N 0.309 neutral None None None None N
S/F 0.2307 likely_benign 0.2341 benign -0.768 Destabilizing 0.984 D 0.412 neutral None None None None N
S/G 0.0975 likely_benign 0.1066 benign -0.883 Destabilizing 0.472 N 0.379 neutral N 0.449464221 None None N
S/H 0.3082 likely_benign 0.3232 benign -1.351 Destabilizing 0.953 D 0.432 neutral None None None None N
S/I 0.1843 likely_benign 0.1898 benign -0.053 Destabilizing 0.939 D 0.434 neutral N 0.510995469 None None N
S/K 0.636 likely_pathogenic 0.6852 pathogenic -0.746 Destabilizing 0.373 N 0.28 neutral None None None None N
S/L 0.138 likely_benign 0.1426 benign -0.053 Destabilizing 0.854 D 0.393 neutral None None None None N
S/M 0.2044 likely_benign 0.2092 benign 0.103 Stabilizing 0.996 D 0.423 neutral None None None None N
S/N 0.1179 likely_benign 0.123 benign -0.702 Destabilizing 0.012 N 0.065 neutral N 0.407228022 None None N
S/P 0.728 likely_pathogenic 0.83 pathogenic -0.209 Destabilizing 0.953 D 0.441 neutral None None None None N
S/Q 0.4659 ambiguous 0.4859 ambiguous -0.814 Destabilizing 0.742 D 0.341 neutral None None None None N
S/R 0.5317 ambiguous 0.5743 pathogenic -0.653 Destabilizing 0.007 N 0.19 neutral N 0.432804044 None None N
S/T 0.084 likely_benign 0.0823 benign -0.698 Destabilizing 0.472 N 0.297 neutral N 0.4753441 None None N
S/V 0.1839 likely_benign 0.1928 benign -0.209 Destabilizing 0.854 D 0.411 neutral None None None None N
S/W 0.4605 ambiguous 0.4861 ambiguous -0.769 Destabilizing 0.996 D 0.556 neutral None None None None N
S/Y 0.2021 likely_benign 0.2101 benign -0.499 Destabilizing 0.984 D 0.413 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.