Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2775683491;83492;83493 chr2:178562866;178562865;178562864chr2:179427593;179427592;179427591
N2AB2611578568;78569;78570 chr2:178562866;178562865;178562864chr2:179427593;179427592;179427591
N2A2518875787;75788;75789 chr2:178562866;178562865;178562864chr2:179427593;179427592;179427591
N2B1869156296;56297;56298 chr2:178562866;178562865;178562864chr2:179427593;179427592;179427591
Novex-11881656671;56672;56673 chr2:178562866;178562865;178562864chr2:179427593;179427592;179427591
Novex-21888356872;56873;56874 chr2:178562866;178562865;178562864chr2:179427593;179427592;179427591
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-141
  • Domain position: 81
  • Structural Position: 168
  • Q(SASA): 0.5465
  • 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 rs745672935 0.067 0.884 N 0.505 0.449 0.49376247819 gnomAD-2.1.1 1.22E-05 None None None None N None 0 0 None 0 0 None 0 None 0 2.69E-05 0
T/I rs745672935 0.067 0.884 N 0.505 0.449 0.49376247819 gnomAD-4.0.0 3.42274E-06 None None None None N None 0 0 None 0 0 None 0 0 3.59874E-06 0 1.65772E-05

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 0.0929 likely_benign 0.0845 benign -0.532 Destabilizing 0.003 N 0.143 neutral D 0.529059234 None None N
T/C 0.4625 ambiguous 0.3958 ambiguous -0.313 Destabilizing 0.987 D 0.488 neutral None None None None N
T/D 0.5739 likely_pathogenic 0.5315 ambiguous 0.113 Stabilizing 0.742 D 0.463 neutral None None None None N
T/E 0.4275 ambiguous 0.4103 ambiguous 0.055 Stabilizing 0.742 D 0.418 neutral None None None None N
T/F 0.3975 ambiguous 0.3315 benign -0.881 Destabilizing 0.953 D 0.541 neutral None None None None N
T/G 0.3263 likely_benign 0.2923 benign -0.704 Destabilizing 0.373 N 0.43 neutral None None None None N
T/H 0.3142 likely_benign 0.2761 benign -1.024 Destabilizing 0.996 D 0.519 neutral None None None None N
T/I 0.266 likely_benign 0.2418 benign -0.189 Destabilizing 0.884 D 0.505 neutral N 0.496131398 None None N
T/K 0.2831 likely_benign 0.2713 benign -0.506 Destabilizing 0.684 D 0.423 neutral N 0.51276163 None None N
T/L 0.1752 likely_benign 0.1576 benign -0.189 Destabilizing 0.59 D 0.429 neutral None None None None N
T/M 0.0994 likely_benign 0.0906 benign 0.067 Stabilizing 0.984 D 0.494 neutral None None None None N
T/N 0.157 likely_benign 0.1421 benign -0.295 Destabilizing 0.742 D 0.435 neutral None None None None N
T/P 0.6127 likely_pathogenic 0.5989 pathogenic -0.273 Destabilizing 0.939 D 0.51 neutral N 0.499752249 None None N
T/Q 0.2577 likely_benign 0.237 benign -0.528 Destabilizing 0.953 D 0.529 neutral None None None None N
T/R 0.2793 likely_benign 0.2671 benign -0.232 Destabilizing 0.884 D 0.517 neutral N 0.513071061 None None N
T/S 0.1082 likely_benign 0.0932 benign -0.545 Destabilizing 0.012 N 0.159 neutral N 0.405383448 None None N
T/V 0.1815 likely_benign 0.1697 benign -0.273 Destabilizing 0.59 D 0.397 neutral None None None None N
T/W 0.7645 likely_pathogenic 0.7058 pathogenic -0.838 Destabilizing 0.996 D 0.588 neutral None None None None N
T/Y 0.3718 ambiguous 0.3222 benign -0.587 Destabilizing 0.984 D 0.537 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.