Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2692380992;80993;80994 chr2:178565365;178565364;178565363chr2:179430092;179430091;179430090
N2AB2528276069;76070;76071 chr2:178565365;178565364;178565363chr2:179430092;179430091;179430090
N2A2435573288;73289;73290 chr2:178565365;178565364;178565363chr2:179430092;179430091;179430090
N2B1785853797;53798;53799 chr2:178565365;178565364;178565363chr2:179430092;179430091;179430090
Novex-11798354172;54173;54174 chr2:178565365;178565364;178565363chr2:179430092;179430091;179430090
Novex-21805054373;54374;54375 chr2:178565365;178565364;178565363chr2:179430092;179430091;179430090
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Ig-139
  • Domain position: 44
  • Structural Position: 73
  • Q(SASA): 0.3684
  • 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
T/I None None 0.988 N 0.652 0.428 0.402326594622 gnomAD-4.0.0 1.36857E-06 None None None None N None 0 0 None 0 2.51991E-05 None 0 0 8.99549E-07 0 0
T/K rs2154164717 None 0.988 N 0.625 0.427 0.355865052028 gnomAD-4.0.0 6.84284E-07 None None None None N None 0 0 None 0 0 None 0 0 0 1.15955E-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
T/A 0.6798 likely_pathogenic 0.6105 pathogenic -0.35 Destabilizing 0.067 N 0.284 neutral N 0.460274017 None None N
T/C 0.9584 likely_pathogenic 0.9467 pathogenic -0.182 Destabilizing 0.999 D 0.658 neutral None None None None N
T/D 0.8094 likely_pathogenic 0.7588 pathogenic -0.011 Destabilizing 0.995 D 0.655 neutral None None None None N
T/E 0.9242 likely_pathogenic 0.8974 pathogenic -0.095 Destabilizing 0.991 D 0.633 neutral None None None None N
T/F 0.9411 likely_pathogenic 0.9276 pathogenic -0.847 Destabilizing 0.995 D 0.726 prob.delet. None None None None N
T/G 0.6736 likely_pathogenic 0.6385 pathogenic -0.477 Destabilizing 0.938 D 0.567 neutral None None None None N
T/H 0.8487 likely_pathogenic 0.8209 pathogenic -0.816 Destabilizing 1.0 D 0.708 prob.delet. None None None None N
T/I 0.9503 likely_pathogenic 0.9312 pathogenic -0.136 Destabilizing 0.988 D 0.652 neutral N 0.477430447 None None N
T/K 0.8447 likely_pathogenic 0.8278 pathogenic -0.415 Destabilizing 0.988 D 0.625 neutral N 0.457298276 None None N
T/L 0.7047 likely_pathogenic 0.6603 pathogenic -0.136 Destabilizing 0.938 D 0.508 neutral None None None None N
T/M 0.458 ambiguous 0.3885 ambiguous 0.125 Stabilizing 1.0 D 0.659 neutral None None None None N
T/N 0.4352 ambiguous 0.379 ambiguous -0.151 Destabilizing 0.995 D 0.645 neutral None None None None N
T/P 0.8958 likely_pathogenic 0.8768 pathogenic -0.179 Destabilizing 0.994 D 0.644 neutral N 0.458565723 None None N
T/Q 0.8583 likely_pathogenic 0.8303 pathogenic -0.419 Destabilizing 0.995 D 0.665 neutral None None None None N
T/R 0.8418 likely_pathogenic 0.8208 pathogenic -0.115 Destabilizing 0.994 D 0.633 neutral N 0.467528945 None None N
T/S 0.409 ambiguous 0.3555 ambiguous -0.337 Destabilizing 0.919 D 0.421 neutral N 0.444775185 None None N
T/V 0.8751 likely_pathogenic 0.8396 pathogenic -0.179 Destabilizing 0.938 D 0.46 neutral None None None None N
T/W 0.9798 likely_pathogenic 0.9751 pathogenic -0.854 Destabilizing 1.0 D 0.727 prob.delet. None None None None N
T/Y 0.9145 likely_pathogenic 0.9044 pathogenic -0.578 Destabilizing 0.998 D 0.723 prob.delet. 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.