Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2426773024;73025;73026 chr2:178573333;178573332;178573331chr2:179438060;179438059;179438058
N2AB2262668101;68102;68103 chr2:178573333;178573332;178573331chr2:179438060;179438059;179438058
N2A2169965320;65321;65322 chr2:178573333;178573332;178573331chr2:179438060;179438059;179438058
N2B1520245829;45830;45831 chr2:178573333;178573332;178573331chr2:179438060;179438059;179438058
Novex-11532746204;46205;46206 chr2:178573333;178573332;178573331chr2:179438060;179438059;179438058
Novex-21539446405;46406;46407 chr2:178573333;178573332;178573331chr2:179438060;179438059;179438058
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: Fn3-64
  • Domain position: 46
  • Structural Position: 63
  • Q(SASA): 0.8881
  • 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/H None None 0.526 N 0.201 0.067 0.283371740733 gnomAD-4.0.0 7.14629E-07 None None None None N None 0 0 None 0 0 None 0 0 9.24141E-07 0 0
Q/R rs1708915937 None 0.061 N 0.265 0.105 0.191931220699 gnomAD-3.1.2 6.57E-06 None None None None N None 0 6.55E-05 0 0 0 None 0 0 0 0 0
Q/R rs1708915937 None 0.061 N 0.265 0.105 0.191931220699 gnomAD-4.0.0 6.57333E-06 None None None None N None 0 6.54622E-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
Q/A 0.1791 likely_benign 0.1814 benign -0.127 Destabilizing 0.036 N 0.253 neutral None None None None N
Q/C 0.5169 ambiguous 0.4939 ambiguous -0.358 Destabilizing 0.901 D 0.217 neutral None None None None N
Q/D 0.4686 ambiguous 0.4301 ambiguous -0.309 Destabilizing 0.08 N 0.237 neutral None None None None N
Q/E 0.138 likely_benign 0.1211 benign -0.369 Destabilizing 0.028 N 0.173 neutral N 0.431763894 None None N
Q/F 0.498 ambiguous 0.4764 ambiguous -0.592 Destabilizing 0.296 N 0.317 neutral None None None None N
Q/G 0.2458 likely_benign 0.2292 benign -0.191 Destabilizing 0.08 N 0.218 neutral None None None None N
Q/H 0.1948 likely_benign 0.1785 benign 0.044 Stabilizing 0.526 D 0.201 neutral N 0.481926143 None None N
Q/I 0.2035 likely_benign 0.2075 benign -0.053 Destabilizing 0.001 N 0.156 neutral None None None None N
Q/K 0.1421 likely_benign 0.1197 benign -0.169 Destabilizing None N 0.077 neutral N 0.438962012 None None N
Q/L 0.0674 likely_benign 0.0709 benign -0.053 Destabilizing None N 0.153 neutral N 0.385706318 None None N
Q/M 0.1921 likely_benign 0.2116 benign -0.134 Destabilizing 0.596 D 0.225 neutral None None None None N
Q/N 0.2425 likely_benign 0.2328 benign -0.45 Destabilizing 0.001 N 0.095 neutral None None None None N
Q/P 0.1223 likely_benign 0.117 benign -0.058 Destabilizing 0.391 N 0.305 neutral N 0.452256597 None None N
Q/R 0.1612 likely_benign 0.1311 benign 0.036 Stabilizing 0.061 N 0.265 neutral N 0.447370852 None None N
Q/S 0.1938 likely_benign 0.197 benign -0.42 Destabilizing 0.08 N 0.188 neutral None None None None N
Q/T 0.1635 likely_benign 0.1737 benign -0.375 Destabilizing 0.148 N 0.312 neutral None None None None N
Q/V 0.1394 likely_benign 0.1474 benign -0.058 Destabilizing 0.036 N 0.243 neutral None None None None N
Q/W 0.5326 ambiguous 0.4675 ambiguous -0.692 Destabilizing 0.972 D 0.233 neutral None None None None N
Q/Y 0.3677 ambiguous 0.3343 benign -0.4 Destabilizing 0.46 N 0.296 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.