Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2159465005;65006;65007 chr2:178584861;178584860;178584859chr2:179449588;179449587;179449586
N2AB1995360082;60083;60084 chr2:178584861;178584860;178584859chr2:179449588;179449587;179449586
N2A1902657301;57302;57303 chr2:178584861;178584860;178584859chr2:179449588;179449587;179449586
N2B1252937810;37811;37812 chr2:178584861;178584860;178584859chr2:179449588;179449587;179449586
Novex-11265438185;38186;38187 chr2:178584861;178584860;178584859chr2:179449588;179449587;179449586
Novex-21272138386;38387;38388 chr2:178584861;178584860;178584859chr2:179449588;179449587;179449586
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: N
  • RefSeq wild type transcript codon: AAT
  • RefSeq wild type template codon: TTA
  • Domain: Fn3-44
  • Domain position: 36
  • Structural Position: 37
  • Q(SASA): 0.1527
  • 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
N/K None None 0.919 N 0.56 0.138 0.18995819373 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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
N/A 0.781 likely_pathogenic 0.8102 pathogenic -1.127 Destabilizing 0.938 D 0.713 prob.delet. None None None None N
N/C 0.5302 ambiguous 0.5436 ambiguous -0.41 Destabilizing 1.0 D 0.878 deleterious None None None None N
N/D 0.7931 likely_pathogenic 0.8369 pathogenic -1.332 Destabilizing 0.958 D 0.516 neutral N 0.473672962 None None N
N/E 0.9776 likely_pathogenic 0.9823 pathogenic -1.198 Destabilizing 0.938 D 0.504 neutral None None None None N
N/F 0.9772 likely_pathogenic 0.9787 pathogenic -0.886 Destabilizing 1.0 D 0.889 deleterious None None None None N
N/G 0.565 likely_pathogenic 0.61 pathogenic -1.471 Destabilizing 0.968 D 0.49 neutral None None None None N
N/H 0.4339 ambiguous 0.4743 ambiguous -1.061 Destabilizing 0.994 D 0.695 prob.neutral D 0.524348768 None None N
N/I 0.9759 likely_pathogenic 0.9818 pathogenic -0.238 Destabilizing 0.994 D 0.897 deleterious N 0.487853651 None None N
N/K 0.9656 likely_pathogenic 0.9722 pathogenic -0.327 Destabilizing 0.919 D 0.56 neutral N 0.512187548 None None N
N/L 0.9231 likely_pathogenic 0.9405 pathogenic -0.238 Destabilizing 0.991 D 0.813 deleterious None None None None N
N/M 0.9556 likely_pathogenic 0.9663 pathogenic 0.24 Stabilizing 0.999 D 0.853 deleterious None None None None N
N/P 0.9964 likely_pathogenic 0.996 pathogenic -0.507 Destabilizing 0.995 D 0.859 deleterious None None None None N
N/Q 0.9175 likely_pathogenic 0.9342 pathogenic -1.14 Destabilizing 0.484 N 0.42 neutral None None None None N
N/R 0.919 likely_pathogenic 0.9293 pathogenic -0.258 Destabilizing 0.982 D 0.671 neutral None None None None N
N/S 0.1695 likely_benign 0.1962 benign -1.154 Destabilizing 0.958 D 0.505 neutral N 0.505992294 None None N
N/T 0.7779 likely_pathogenic 0.8097 pathogenic -0.832 Destabilizing 0.958 D 0.585 neutral N 0.465684019 None None N
N/V 0.9456 likely_pathogenic 0.958 pathogenic -0.507 Destabilizing 0.991 D 0.864 deleterious None None None None N
N/W 0.9886 likely_pathogenic 0.9906 pathogenic -0.616 Destabilizing 1.0 D 0.852 deleterious None None None None N
N/Y 0.7752 likely_pathogenic 0.7925 pathogenic -0.37 Destabilizing 0.998 D 0.865 deleterious N 0.471622274 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.