Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1526946030;46031;46032 chr2:178620805;178620804;178620803chr2:179485532;179485531;179485530
N2AB1362841107;41108;41109 chr2:178620805;178620804;178620803chr2:179485532;179485531;179485530
N2A1270138326;38327;38328 chr2:178620805;178620804;178620803chr2:179485532;179485531;179485530
N2B620418835;18836;18837 chr2:178620805;178620804;178620803chr2:179485532;179485531;179485530
Novex-1632919210;19211;19212 chr2:178620805;178620804;178620803chr2:179485532;179485531;179485530
Novex-2639619411;19412;19413 chr2:178620805;178620804;178620803chr2:179485532;179485531;179485530
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCA
  • RefSeq wild type template codon: CGT
  • Domain: Ig-104
  • Domain position: 62
  • Structural Position: 144
  • Q(SASA): 0.0847
  • 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
A/P None None 0.949 D 0.687 0.546 0.605722390383 gnomAD-4.0.0 1.59334E-06 None None None None N None 0 0 None 0 2.77685E-05 None 0 0 0 0 0
A/V rs1576550520 None 0.075 N 0.375 0.231 0.435152311215 gnomAD-4.0.0 1.59332E-06 None None None None N None 0 0 None 0 0 None 0 0 2.86266E-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
A/C 0.5519 ambiguous 0.6099 pathogenic -1.464 Destabilizing 0.996 D 0.616 neutral None None None None N
A/D 0.9647 likely_pathogenic 0.9694 pathogenic -3.06 Highly Destabilizing 0.923 D 0.695 prob.neutral None None None None N
A/E 0.9475 likely_pathogenic 0.9544 pathogenic -2.968 Highly Destabilizing 0.901 D 0.675 neutral D 0.65851299 None None N
A/F 0.8201 likely_pathogenic 0.8513 pathogenic -0.737 Destabilizing 0.961 D 0.697 prob.neutral None None None None N
A/G 0.3509 ambiguous 0.3591 ambiguous -1.41 Destabilizing 0.565 D 0.566 neutral D 0.658410533 None None N
A/H 0.9639 likely_pathogenic 0.9703 pathogenic -1.568 Destabilizing 0.989 D 0.686 prob.neutral None None None None N
A/I 0.3897 ambiguous 0.4846 ambiguous -0.24 Destabilizing 0.633 D 0.654 neutral None None None None N
A/K 0.9713 likely_pathogenic 0.9735 pathogenic -1.402 Destabilizing 0.858 D 0.681 prob.neutral None None None None N
A/L 0.3517 ambiguous 0.4212 ambiguous -0.24 Destabilizing 0.633 D 0.573 neutral None None None None N
A/M 0.4602 ambiguous 0.5722 pathogenic -0.405 Destabilizing 0.989 D 0.667 neutral None None None None N
A/N 0.8549 likely_pathogenic 0.8964 pathogenic -1.685 Destabilizing 0.858 D 0.698 prob.neutral None None None None N
A/P 0.7388 likely_pathogenic 0.7917 pathogenic -0.485 Destabilizing 0.949 D 0.687 prob.neutral D 0.594926132 None None N
A/Q 0.9305 likely_pathogenic 0.9374 pathogenic -1.661 Destabilizing 0.923 D 0.681 prob.neutral None None None None N
A/R 0.9391 likely_pathogenic 0.9376 pathogenic -1.233 Destabilizing 0.923 D 0.699 prob.neutral None None None None N
A/S 0.1965 likely_benign 0.2259 benign -1.863 Destabilizing 0.034 N 0.379 neutral N 0.516281361 None None N
A/T 0.107 likely_benign 0.1697 benign -1.695 Destabilizing 0.034 N 0.325 neutral N 0.507817585 None None N
A/V 0.1744 likely_benign 0.2166 benign -0.485 Destabilizing 0.075 N 0.375 neutral N 0.490406781 None None N
A/W 0.9857 likely_pathogenic 0.9876 pathogenic -1.413 Destabilizing 0.996 D 0.709 prob.delet. None None None None N
A/Y 0.9499 likely_pathogenic 0.9589 pathogenic -1.013 Destabilizing 0.987 D 0.702 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.