Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC11383637;3638;3639 chr2:178781232;178781231;178781230chr2:179645959;179645958;179645957
N2AB11383637;3638;3639 chr2:178781232;178781231;178781230chr2:179645959;179645958;179645957
N2A11383637;3638;3639 chr2:178781232;178781231;178781230chr2:179645959;179645958;179645957
N2B10923499;3500;3501 chr2:178781232;178781231;178781230chr2:179645959;179645958;179645957
Novex-110923499;3500;3501 chr2:178781232;178781231;178781230chr2:179645959;179645958;179645957
Novex-210923499;3500;3501 chr2:178781232;178781231;178781230chr2:179645959;179645958;179645957
Novex-311383637;3638;3639 chr2:178781232;178781231;178781230chr2:179645959;179645958;179645957

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Ig-4
  • Domain position: 57
  • Structural Position: 135
  • Q(SASA): 0.3547
  • Predicted PPI site: I

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
E/D rs777365068 -0.743 0.046 N 0.365 0.128 0.130388298395 gnomAD-2.1.1 3.98E-06 None None None None I None 0 0 None 0 0 None 3.27E-05 None 0 0 0
E/D rs777365068 -0.743 0.046 N 0.365 0.128 0.130388298395 gnomAD-4.0.0 2.05237E-06 None None None None I None 0 0 None 0 0 None 0 0 0 3.47802E-05 0
E/G rs749125389 -0.351 0.939 N 0.687 0.584 0.522822360876 gnomAD-2.1.1 1.19E-05 None None None None I None 0 0 None 0 0 None 0 None 0 2.64E-05 0
E/G rs749125389 -0.351 0.939 N 0.687 0.584 0.522822360876 gnomAD-3.1.2 6.57E-06 None None None None I None 0 0 0 0 0 None 0 0 1.47E-05 0 0
E/G rs749125389 -0.351 0.939 N 0.687 0.584 0.522822360876 gnomAD-4.0.0 3.71756E-06 None None None None I None 0 0 None 0 0 None 0 0 3.38988E-06 0 3.20102E-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
E/A 0.2389 likely_benign 0.2329 benign -0.22 Destabilizing 0.939 D 0.588 neutral N 0.510573711 None None I
E/C 0.9348 likely_pathogenic 0.9318 pathogenic 0.072 Stabilizing 0.999 D 0.71 prob.delet. None None None None I
E/D 0.1861 likely_benign 0.1914 benign -0.941 Destabilizing 0.046 N 0.365 neutral N 0.48194961 None None I
E/F 0.787 likely_pathogenic 0.7926 pathogenic -0.639 Destabilizing 0.999 D 0.762 deleterious None None None None I
E/G 0.4098 ambiguous 0.3946 ambiguous -0.47 Destabilizing 0.939 D 0.687 prob.neutral N 0.492660464 None None I
E/H 0.6406 likely_pathogenic 0.6373 pathogenic -0.999 Destabilizing 0.998 D 0.661 neutral None None None None I
E/I 0.372 ambiguous 0.3869 ambiguous 0.409 Stabilizing 0.993 D 0.78 deleterious None None None None I
E/K 0.2806 likely_benign 0.2831 benign -0.051 Destabilizing 0.885 D 0.511 neutral N 0.505669359 None None I
E/L 0.48 ambiguous 0.4827 ambiguous 0.409 Stabilizing 0.993 D 0.747 deleterious None None None None I
E/M 0.5238 ambiguous 0.5307 ambiguous 0.824 Stabilizing 0.999 D 0.743 deleterious None None None None I
E/N 0.3911 ambiguous 0.3995 ambiguous -0.232 Destabilizing 0.973 D 0.645 neutral None None None None I
E/P 0.9883 likely_pathogenic 0.9877 pathogenic 0.222 Stabilizing 0.993 D 0.759 deleterious None None None None I
E/Q 0.2105 likely_benign 0.2084 benign -0.201 Destabilizing 0.58 D 0.315 neutral N 0.507636492 None None I
E/R 0.4822 ambiguous 0.483 ambiguous -0.162 Destabilizing 0.986 D 0.642 neutral None None None None I
E/S 0.3497 ambiguous 0.3541 ambiguous -0.445 Destabilizing 0.953 D 0.549 neutral None None None None I
E/T 0.3644 ambiguous 0.3708 ambiguous -0.248 Destabilizing 0.993 D 0.717 prob.delet. None None None None I
E/V 0.27 likely_benign 0.2737 benign 0.222 Stabilizing 0.991 D 0.736 prob.delet. N 0.459651781 None None I
E/W 0.949 likely_pathogenic 0.9519 pathogenic -0.757 Destabilizing 0.999 D 0.702 prob.neutral None None None None I
E/Y 0.7329 likely_pathogenic 0.7419 pathogenic -0.453 Destabilizing 0.998 D 0.767 deleterious None None None None I

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.