Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC658419975;19976;19977 chr2:178727828;178727827;178727826chr2:179592555;179592554;179592553
N2AB626719024;19025;19026 chr2:178727828;178727827;178727826chr2:179592555;179592554;179592553
N2A534016243;16244;16245 chr2:178727828;178727827;178727826chr2:179592555;179592554;179592553
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: Q
  • RefSeq wild type transcript codon: CAA
  • RefSeq wild type template codon: GTT
  • Domain: Ig-50
  • Domain position: 11
  • Structural Position: 14
  • Q(SASA): 0.5652
  • 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
Q/K rs908969278 None 0.002 N 0.151 0.106 None gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-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
Q/A 0.2251 likely_benign 0.2199 benign -0.201 Destabilizing 0.013 N 0.149 neutral None None None None N
Q/C 0.7644 likely_pathogenic 0.7801 pathogenic 0.129 Stabilizing 0.995 D 0.256 neutral None None None None N
Q/D 0.3057 likely_benign 0.2788 benign 0.083 Stabilizing 0.003 N 0.143 neutral None None None None N
Q/E 0.0678 likely_benign 0.0657 benign 0.085 Stabilizing 0.139 N 0.177 neutral N 0.361800456 None None N
Q/F 0.6749 likely_pathogenic 0.6875 pathogenic -0.232 Destabilizing 0.944 D 0.302 neutral None None None None N
Q/G 0.3282 likely_benign 0.319 benign -0.434 Destabilizing 0.329 N 0.237 neutral None None None None N
Q/H 0.2446 likely_benign 0.2392 benign -0.259 Destabilizing 0.975 D 0.301 neutral N 0.493309077 None None N
Q/I 0.3366 likely_benign 0.3447 ambiguous 0.337 Stabilizing 0.543 D 0.378 neutral None None None None N
Q/K 0.102 likely_benign 0.0975 benign 0.01 Stabilizing 0.002 N 0.151 neutral N 0.429276242 None None N
Q/L 0.137 likely_benign 0.1368 benign 0.337 Stabilizing 0.27 N 0.25 neutral N 0.468450705 None None N
Q/M 0.3477 ambiguous 0.3547 ambiguous 0.466 Stabilizing 0.944 D 0.283 neutral None None None None N
Q/N 0.2797 likely_benign 0.2668 benign -0.35 Destabilizing 0.704 D 0.196 neutral None None None None N
Q/P 0.181 likely_benign 0.1747 benign 0.188 Stabilizing 0.784 D 0.311 neutral N 0.512337555 None None N
Q/R 0.126 likely_benign 0.127 benign 0.148 Stabilizing 0.473 N 0.211 neutral N 0.452211816 None None N
Q/S 0.2656 likely_benign 0.2596 benign -0.368 Destabilizing 0.037 N 0.143 neutral None None None None N
Q/T 0.1866 likely_benign 0.1891 benign -0.201 Destabilizing 0.329 N 0.291 neutral None None None None N
Q/V 0.2155 likely_benign 0.2194 benign 0.188 Stabilizing 0.031 N 0.179 neutral None None None None N
Q/W 0.5651 likely_pathogenic 0.5664 pathogenic -0.192 Destabilizing 0.995 D 0.271 neutral None None None None N
Q/Y 0.4771 ambiguous 0.4894 ambiguous 0.051 Stabilizing 0.981 D 0.326 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.