Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2994990070;90071;90072 chr2:178553055;178553054;178553053chr2:179417782;179417781;179417780
N2AB2830885147;85148;85149 chr2:178553055;178553054;178553053chr2:179417782;179417781;179417780
N2A2738182366;82367;82368 chr2:178553055;178553054;178553053chr2:179417782;179417781;179417780
N2B2088462875;62876;62877 chr2:178553055;178553054;178553053chr2:179417782;179417781;179417780
Novex-12100963250;63251;63252 chr2:178553055;178553054;178553053chr2:179417782;179417781;179417780
Novex-22107663451;63452;63453 chr2:178553055;178553054;178553053chr2:179417782;179417781;179417780
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: Fn3-106
  • Domain position: 17
  • Structural Position: 19
  • Q(SASA): 0.135
  • 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 rs1284316750 -0.199 0.81 N 0.619 0.244 0.458374381611 gnomAD-2.1.1 4.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.92E-06 0
T/I rs1284316750 -0.199 0.81 N 0.619 0.244 0.458374381611 gnomAD-4.0.0 1.36982E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79924E-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
T/A 0.0805 likely_benign 0.0803 benign -1.027 Destabilizing 0.002 N 0.152 neutral N 0.456433052 None None N
T/C 0.3144 likely_benign 0.2992 benign -0.791 Destabilizing 0.977 D 0.573 neutral None None None None N
T/D 0.404 ambiguous 0.3786 ambiguous -0.553 Destabilizing 0.447 N 0.485 neutral None None None None N
T/E 0.2909 likely_benign 0.2789 benign -0.527 Destabilizing 0.021 N 0.275 neutral None None None None N
T/F 0.1869 likely_benign 0.1764 benign -1.107 Destabilizing 0.92 D 0.629 neutral None None None None N
T/G 0.2706 likely_benign 0.2494 benign -1.289 Destabilizing 0.447 N 0.489 neutral None None None None N
T/H 0.2118 likely_benign 0.2105 benign -1.537 Destabilizing 0.92 D 0.61 neutral None None None None N
T/I 0.171 likely_benign 0.1761 benign -0.41 Destabilizing 0.81 D 0.619 neutral N 0.521753967 None None N
T/K 0.2201 likely_benign 0.2134 benign -0.703 Destabilizing 0.007 N 0.255 neutral N 0.494335293 None None N
T/L 0.1062 likely_benign 0.1083 benign -0.41 Destabilizing 0.447 N 0.492 neutral None None None None N
T/M 0.0788 likely_benign 0.0776 benign -0.093 Destabilizing 0.972 D 0.599 neutral None None None None N
T/N 0.1038 likely_benign 0.0981 benign -0.753 Destabilizing 0.766 D 0.486 neutral None None None None N
T/P 0.6198 likely_pathogenic 0.6386 pathogenic -0.585 Destabilizing 0.712 D 0.571 neutral N 0.492274651 None None N
T/Q 0.2004 likely_benign 0.1958 benign -0.968 Destabilizing 0.059 N 0.315 neutral None None None None N
T/R 0.188 likely_benign 0.1808 benign -0.486 Destabilizing 0.379 N 0.505 neutral N 0.508053951 None None N
T/S 0.0881 likely_benign 0.083 benign -1.073 Destabilizing 0.201 N 0.381 neutral N 0.340235026 None None N
T/V 0.1375 likely_benign 0.1398 benign -0.585 Destabilizing 0.447 N 0.442 neutral None None None None N
T/W 0.5657 likely_pathogenic 0.5421 ambiguous -0.991 Destabilizing 0.992 D 0.605 neutral None None None None N
T/Y 0.2248 likely_benign 0.216 benign -0.74 Destabilizing 0.972 D 0.623 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.