Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3291598968;98969;98970 chr2:178539192;178539191;178539190chr2:179403919;179403918;179403917
N2AB3127494045;94046;94047 chr2:178539192;178539191;178539190chr2:179403919;179403918;179403917
N2A3034791264;91265;91266 chr2:178539192;178539191;178539190chr2:179403919;179403918;179403917
N2B2385071773;71774;71775 chr2:178539192;178539191;178539190chr2:179403919;179403918;179403917
Novex-12397572148;72149;72150 chr2:178539192;178539191;178539190chr2:179403919;179403918;179403917
Novex-22404272349;72350;72351 chr2:178539192;178539191;178539190chr2:179403919;179403918;179403917
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: AGC
  • RefSeq wild type template codon: TCG
  • Domain: Fn3-128
  • Domain position: 20
  • Structural Position: 21
  • Q(SASA): 0.2824
  • 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
S/C rs760917372 -0.702 0.999 N 0.625 0.293 0.461495907335 gnomAD-2.1.1 4.02E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.87E-06 0
S/C rs760917372 -0.702 0.999 N 0.625 0.293 0.461495907335 gnomAD-4.0.0 1.36843E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79898E-06 0 0
S/G rs760917372 -1.232 0.026 N 0.235 0.153 0.17948927462 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 1.77E-05 0
S/G rs760917372 -1.232 0.026 N 0.235 0.153 0.17948927462 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
S/G rs760917372 -1.232 0.026 N 0.235 0.153 0.17948927462 gnomAD-4.0.0 8.67571E-06 None None None None N None 0 0 None 0 0 None 0 1.31579E-03 5.08574E-06 0 0
S/R None None 0.968 N 0.611 0.274 0.42748209135 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 3.93751E-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
S/A 0.1319 likely_benign 0.1287 benign -0.861 Destabilizing 0.702 D 0.425 neutral None None None None N
S/C 0.1635 likely_benign 0.1608 benign -0.774 Destabilizing 0.999 D 0.625 neutral N 0.520156457 None None N
S/D 0.872 likely_pathogenic 0.8779 pathogenic -0.685 Destabilizing 0.851 D 0.397 neutral None None None None N
S/E 0.9033 likely_pathogenic 0.9111 pathogenic -0.625 Destabilizing 0.919 D 0.419 neutral None None None None N
S/F 0.4579 ambiguous 0.4882 ambiguous -0.921 Destabilizing 0.996 D 0.707 prob.neutral None None None None N
S/G 0.2274 likely_benign 0.2102 benign -1.149 Destabilizing 0.026 N 0.235 neutral N 0.508131309 None None N
S/H 0.6057 likely_pathogenic 0.6058 pathogenic -1.54 Destabilizing 0.997 D 0.623 neutral None None None None N
S/I 0.3472 ambiguous 0.329 benign -0.18 Destabilizing 0.984 D 0.693 prob.neutral N 0.48777468 None None N
S/K 0.9474 likely_pathogenic 0.9524 pathogenic -0.58 Destabilizing 0.919 D 0.435 neutral None None None None N
S/L 0.2029 likely_benign 0.2116 benign -0.18 Destabilizing 0.988 D 0.615 neutral None None None None N
S/M 0.3079 likely_benign 0.2769 benign -0.064 Destabilizing 0.999 D 0.621 neutral None None None None N
S/N 0.3157 likely_benign 0.3 benign -0.77 Destabilizing 0.026 N 0.415 neutral N 0.47592289 None None N
S/P 0.9732 likely_pathogenic 0.9791 pathogenic -0.374 Destabilizing 0.996 D 0.603 neutral None None None None N
S/Q 0.7542 likely_pathogenic 0.7524 pathogenic -0.867 Destabilizing 0.988 D 0.503 neutral None None None None N
S/R 0.908 likely_pathogenic 0.9248 pathogenic -0.585 Destabilizing 0.968 D 0.611 neutral N 0.487254605 None None N
S/T 0.1278 likely_benign 0.1249 benign -0.717 Destabilizing 0.896 D 0.43 neutral N 0.42985974 None None N
S/V 0.3501 ambiguous 0.3202 benign -0.374 Destabilizing 0.988 D 0.629 neutral None None None None N
S/W 0.7039 likely_pathogenic 0.7412 pathogenic -0.914 Destabilizing 0.999 D 0.719 prob.delet. None None None None N
S/Y 0.418 ambiguous 0.4576 ambiguous -0.601 Destabilizing 0.996 D 0.709 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.