Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC762623101;23102;23103 chr2:178721143;178721142;178721141chr2:179585870;179585869;179585868
N2AB730922150;22151;22152 chr2:178721143;178721142;178721141chr2:179585870;179585869;179585868
N2A638219369;19370;19371 chr2:178721143;178721142;178721141chr2:179585870;179585869;179585868
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: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-61
  • Domain position: 19
  • Structural Position: 28
  • Q(SASA): 0.2095
  • 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
I/L rs1560677297 None None N 0.185 0.098 0.207176502487 gnomAD-2.1.1 3.18E-05 None None None None N None 0 0 None 0 0 None 0 None 0 0 9.19118E-04
I/L rs1560677297 None None N 0.185 0.098 0.207176502487 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
I/L rs1560677297 None None N 0.185 0.098 0.207176502487 gnomAD-4.0.0 6.57065E-06 None None None None N None 0 6.54965E-05 None 0 0 None 0 0 0 0 0
I/V None None None N 0.158 0.07 0.19670166235 gnomAD-4.0.0 2.40064E-06 None None None None N None 0 0 None 0 0 None 0 0 2.625E-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
I/A 0.4437 ambiguous 0.3493 ambiguous -2.074 Highly Destabilizing 0.002 N 0.452 neutral None None None None N
I/C 0.7018 likely_pathogenic 0.6473 pathogenic -1.73 Destabilizing None N 0.448 neutral None None None None N
I/D 0.9167 likely_pathogenic 0.8748 pathogenic -1.222 Destabilizing 0.044 N 0.642 neutral None None None None N
I/E 0.84 likely_pathogenic 0.7928 pathogenic -1.154 Destabilizing 0.044 N 0.637 neutral None None None None N
I/F 0.1584 likely_benign 0.1542 benign -1.371 Destabilizing 0.033 N 0.604 neutral N 0.456979265 None None N
I/G 0.8045 likely_pathogenic 0.7204 pathogenic -2.476 Highly Destabilizing 0.009 N 0.576 neutral None None None None N
I/H 0.7044 likely_pathogenic 0.6424 pathogenic -1.519 Destabilizing 0.497 N 0.695 prob.neutral None None None None N
I/K 0.7549 likely_pathogenic 0.6865 pathogenic -1.49 Destabilizing 0.018 N 0.628 neutral None None None None N
I/L 0.1159 likely_benign 0.1043 benign -1.007 Destabilizing None N 0.185 neutral N 0.386249743 None None N
I/M 0.1378 likely_benign 0.1229 benign -0.993 Destabilizing 0.108 N 0.597 neutral N 0.502212909 None None N
I/N 0.5994 likely_pathogenic 0.5062 ambiguous -1.444 Destabilizing 0.033 N 0.685 prob.neutral N 0.467924247 None None N
I/P 0.9263 likely_pathogenic 0.8866 pathogenic -1.333 Destabilizing None N 0.519 neutral None None None None N
I/Q 0.7107 likely_pathogenic 0.6413 pathogenic -1.528 Destabilizing 0.085 N 0.728 prob.delet. None None None None N
I/R 0.6542 likely_pathogenic 0.5649 pathogenic -0.933 Destabilizing 0.044 N 0.713 prob.delet. None None None None N
I/S 0.4723 ambiguous 0.3636 ambiguous -2.229 Highly Destabilizing None N 0.422 neutral N 0.502386268 None None N
I/T 0.3422 ambiguous 0.2653 benign -2.016 Highly Destabilizing None N 0.38 neutral N 0.433083685 None None N
I/V 0.0717 likely_benign 0.0684 benign -1.333 Destabilizing None N 0.158 neutral N 0.374029808 None None N
I/W 0.8238 likely_pathogenic 0.7914 pathogenic -1.387 Destabilizing 0.788 D 0.683 prob.neutral None None None None N
I/Y 0.5979 likely_pathogenic 0.5493 ambiguous -1.197 Destabilizing 0.245 N 0.699 prob.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.