Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC501415265;15266;15267 chr2:178734884;178734883;178734882chr2:179599611;179599610;179599609
N2AB469714314;14315;14316 chr2:178734884;178734883;178734882chr2:179599611;179599610;179599609
N2A377011533;11534;11535 chr2:178734884;178734883;178734882chr2:179599611;179599610;179599609
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: T
  • RefSeq wild type transcript codon: ACT
  • RefSeq wild type template codon: TGA
  • Domain: Ig-33
  • Domain position: 34
  • Structural Position: 47
  • Q(SASA): 0.2541
  • 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/A rs143093473 -0.932 0.64 N 0.577 0.235 0.317667799068 gnomAD-2.1.1 6.05E-05 None None None None N None 0 0 None 0 0 None 4.90709E-04 None 0 0 0
T/A rs143093473 -0.932 0.64 N 0.577 0.235 0.317667799068 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 0 2.07211E-04 0
T/A rs143093473 -0.932 0.64 N 0.577 0.235 0.317667799068 gnomAD-4.0.0 2.35528E-05 None None None None N None 0 0 None 0 0 None 0 0 1.69534E-06 3.73356E-04 3.2039E-05
T/I None None 0.984 N 0.674 0.453 0.684344447183 gnomAD-4.0.0 1.59202E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43299E-05 0
T/S rs143093473 -1.252 0.103 N 0.431 0.093 0.226586394389 gnomAD-2.1.1 9.67E-05 None None None None N None 0 0 None 0 1.39348E-03 None 0 None 0 0 0
T/S rs143093473 -1.252 0.103 N 0.431 0.093 0.226586394389 gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 9.64134E-04 None 0 0 0 0 0
T/S rs143093473 -1.252 0.103 N 0.431 0.093 0.226586394389 1000 genomes 5.99042E-04 None None None None N None 0 0 None None 3E-03 0 None None None 0 None
T/S rs143093473 -1.252 0.103 N 0.431 0.093 0.226586394389 gnomAD-4.0.0 2.41708E-05 None None None None N None 0 0 None 0 8.04218E-04 None 0 0 0 0 4.80415E-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 0.0997 likely_benign 0.1112 benign -0.911 Destabilizing 0.64 D 0.577 neutral N 0.508125133 None None N
T/C 0.4728 ambiguous 0.4674 ambiguous -0.463 Destabilizing 0.999 D 0.662 neutral None None None None N
T/D 0.507 ambiguous 0.5593 ambiguous -0.577 Destabilizing 0.919 D 0.615 neutral None None None None N
T/E 0.3909 ambiguous 0.4331 ambiguous -0.491 Destabilizing 0.919 D 0.607 neutral None None None None N
T/F 0.2524 likely_benign 0.311 benign -0.634 Destabilizing 0.988 D 0.731 prob.delet. None None None None N
T/G 0.3464 ambiguous 0.4061 ambiguous -1.257 Destabilizing 0.851 D 0.645 neutral None None None None N
T/H 0.2002 likely_benign 0.2198 benign -1.411 Destabilizing 0.034 N 0.5 neutral None None None None N
T/I 0.1768 likely_benign 0.197 benign -0.046 Destabilizing 0.984 D 0.674 neutral N 0.51446667 None None N
T/K 0.1473 likely_benign 0.1516 benign -0.826 Destabilizing 0.919 D 0.615 neutral None None None None N
T/L 0.1182 likely_benign 0.1392 benign -0.046 Destabilizing 0.919 D 0.601 neutral None None None None N
T/M 0.1005 likely_benign 0.1126 benign 0.069 Stabilizing 0.999 D 0.66 neutral None None None None N
T/N 0.1275 likely_benign 0.1555 benign -0.95 Destabilizing 0.896 D 0.551 neutral D 0.540195118 None None N
T/P 0.7434 likely_pathogenic 0.7726 pathogenic -0.302 Destabilizing 0.984 D 0.674 neutral D 0.693936563 None None N
T/Q 0.2026 likely_benign 0.2219 benign -0.901 Destabilizing 0.988 D 0.673 neutral None None None None N
T/R 0.118 likely_benign 0.1234 benign -0.76 Destabilizing 0.976 D 0.659 neutral None None None None N
T/S 0.1099 likely_benign 0.1274 benign -1.204 Destabilizing 0.103 N 0.431 neutral N 0.494758813 None None N
T/V 0.159 likely_benign 0.1734 benign -0.302 Destabilizing 0.919 D 0.551 neutral None None None None N
T/W 0.6131 likely_pathogenic 0.6576 pathogenic -0.693 Destabilizing 0.999 D 0.729 prob.delet. None None None None N
T/Y 0.2936 likely_benign 0.3321 benign -0.44 Destabilizing 0.976 D 0.715 prob.delet. 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.