Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2186865827;65828;65829 chr2:178583201;178583200;178583199chr2:179447928;179447927;179447926
N2AB2022760904;60905;60906 chr2:178583201;178583200;178583199chr2:179447928;179447927;179447926
N2A1930058123;58124;58125 chr2:178583201;178583200;178583199chr2:179447928;179447927;179447926
N2B1280338632;38633;38634 chr2:178583201;178583200;178583199chr2:179447928;179447927;179447926
Novex-11292839007;39008;39009 chr2:178583201;178583200;178583199chr2:179447928;179447927;179447926
Novex-21299539208;39209;39210 chr2:178583201;178583200;178583199chr2:179447928;179447927;179447926
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCT
  • RefSeq wild type template codon: CGA
  • Domain: Ig-125
  • Domain position: 3
  • Structural Position: 3
  • Q(SASA): 0.4119
  • 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
A/V None None 0.055 N 0.269 0.066 0.352910780287 gnomAD-4.0.0 1.60556E-06 None None None None N None 0 2.29811E-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
A/C 0.4941 ambiguous 0.4453 ambiguous -0.759 Destabilizing 0.864 D 0.383 neutral None None None None N
A/D 0.1736 likely_benign 0.1547 benign -0.277 Destabilizing None N 0.287 neutral N 0.439546376 None None N
A/E 0.1175 likely_benign 0.1139 benign -0.42 Destabilizing None N 0.19 neutral None None None None N
A/F 0.392 ambiguous 0.34 ambiguous -0.786 Destabilizing 0.628 D 0.473 neutral None None None None N
A/G 0.1332 likely_benign 0.1246 benign -0.253 Destabilizing None N 0.125 neutral N 0.470216 None None N
A/H 0.3333 likely_benign 0.3028 benign -0.293 Destabilizing 0.356 N 0.466 neutral None None None None N
A/I 0.2515 likely_benign 0.2237 benign -0.239 Destabilizing 0.136 N 0.486 neutral None None None None N
A/K 0.2897 likely_benign 0.2588 benign -0.554 Destabilizing None N 0.207 neutral None None None None N
A/L 0.1803 likely_benign 0.1635 benign -0.239 Destabilizing 0.031 N 0.39 neutral None None None None N
A/M 0.2248 likely_benign 0.2073 benign -0.378 Destabilizing 0.628 D 0.396 neutral None None None None N
A/N 0.1658 likely_benign 0.151 benign -0.238 Destabilizing None N 0.281 neutral None None None None N
A/P 0.1652 likely_benign 0.1526 benign -0.191 Destabilizing 0.106 N 0.405 neutral N 0.43277512 None None N
A/Q 0.1853 likely_benign 0.1743 benign -0.478 Destabilizing 0.001 N 0.233 neutral None None None None N
A/R 0.331 likely_benign 0.297 benign -0.143 Destabilizing 0.038 N 0.395 neutral None None None None N
A/S 0.082 likely_benign 0.0777 benign -0.468 Destabilizing None N 0.087 neutral N 0.416378728 None None N
A/T 0.0742 likely_benign 0.0709 benign -0.523 Destabilizing 0.012 N 0.237 neutral N 0.428425306 None None N
A/V 0.1283 likely_benign 0.1202 benign -0.191 Destabilizing 0.055 N 0.269 neutral N 0.458652212 None None N
A/W 0.7017 likely_pathogenic 0.6633 pathogenic -0.942 Destabilizing 0.864 D 0.492 neutral None None None None N
A/Y 0.4459 ambiguous 0.4054 ambiguous -0.582 Destabilizing 0.628 D 0.483 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.