Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC17295410;5411;5412 chr2:178776679;178776678;178776677chr2:179641406;179641405;179641404
N2AB17295410;5411;5412 chr2:178776679;178776678;178776677chr2:179641406;179641405;179641404
N2A17295410;5411;5412 chr2:178776679;178776678;178776677chr2:179641406;179641405;179641404
N2B16835272;5273;5274 chr2:178776679;178776678;178776677chr2:179641406;179641405;179641404
Novex-116835272;5273;5274 chr2:178776679;178776678;178776677chr2:179641406;179641405;179641404
Novex-216835272;5273;5274 chr2:178776679;178776678;178776677chr2:179641406;179641405;179641404
Novex-317295410;5411;5412 chr2:178776679;178776678;178776677chr2:179641406;179641405;179641404

Information

  • RefSeq wild type amino acid: I
  • RefSeq wild type transcript codon: ATT
  • RefSeq wild type template codon: TAA
  • Domain: Ig-8
  • Domain position: 27
  • Structural Position: 38
  • Q(SASA): 0.8231
  • 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
I/F rs752183514 -0.634 1.0 N 0.598 0.426 0.442160178816 gnomAD-2.1.1 3.99E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.83E-06 0
I/F rs752183514 -0.634 1.0 N 0.598 0.426 0.442160178816 gnomAD-4.0.0 6.84095E-07 None None None None I None 2.98757E-05 0 None 0 0 None 0 0 0 0 0
I/L None -0.08 0.993 N 0.354 0.297 0.422524665647 gnomAD-2.1.1 3.99E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.83E-06 0
I/L None -0.08 0.993 N 0.354 0.297 0.422524665647 gnomAD-4.0.0 2.73638E-06 None None None None I None 0 0 None 0 0 None 0 0 3.59718E-06 0 0
I/T rs1201228065 -0.238 1.0 N 0.577 0.537 0.651761151518 gnomAD-2.1.1 1.99E-05 None None None None I None 0 1.44743E-04 None 0 0 None 0 None 0 0 0
I/T rs1201228065 -0.238 1.0 N 0.577 0.537 0.651761151518 gnomAD-4.0.0 8.20914E-06 None None None None I None 0 8.94654E-05 None 0 0 None 0 0 6.29507E-06 1.15931E-05 0
I/V rs752183514 None 0.993 N 0.365 0.291 0.377799810692 gnomAD-2.1.1 3.99E-06 None None None None I None 6.15E-05 0 None 0 0 None 0 None 0 0 0
I/V rs752183514 None 0.993 N 0.365 0.291 0.377799810692 gnomAD-4.0.0 5.47276E-06 None None None None I None 2.98757E-05 0 None 0 0 None 0 0 6.29507E-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 0.8479 likely_pathogenic 0.7812 pathogenic -0.487 Destabilizing 0.999 D 0.52 neutral None None None None I
I/C 0.9937 likely_pathogenic 0.9898 pathogenic -0.673 Destabilizing 1.0 D 0.616 neutral None None None None I
I/D 0.9972 likely_pathogenic 0.9964 pathogenic -0.007 Destabilizing 1.0 D 0.673 neutral None None None None I
I/E 0.9902 likely_pathogenic 0.9867 pathogenic -0.096 Destabilizing 1.0 D 0.671 neutral None None None None I
I/F 0.8448 likely_pathogenic 0.8382 pathogenic -0.546 Destabilizing 1.0 D 0.598 neutral N 0.506245323 None None I
I/G 0.9929 likely_pathogenic 0.9894 pathogenic -0.626 Destabilizing 1.0 D 0.675 prob.neutral None None None None I
I/H 0.9948 likely_pathogenic 0.993 pathogenic -0.017 Destabilizing 1.0 D 0.709 prob.delet. None None None None I
I/K 0.9839 likely_pathogenic 0.9803 pathogenic -0.3 Destabilizing 1.0 D 0.675 neutral None None None None I
I/L 0.4474 ambiguous 0.4023 ambiguous -0.245 Destabilizing 0.993 D 0.354 neutral N 0.506167793 None None I
I/M 0.5047 ambiguous 0.4454 ambiguous -0.438 Destabilizing 1.0 D 0.586 neutral N 0.508628001 None None I
I/N 0.9797 likely_pathogenic 0.974 pathogenic -0.137 Destabilizing 1.0 D 0.692 prob.neutral N 0.51318875 None None I
I/P 0.9618 likely_pathogenic 0.9436 pathogenic -0.294 Destabilizing 1.0 D 0.691 prob.neutral None None None None I
I/Q 0.9869 likely_pathogenic 0.9817 pathogenic -0.313 Destabilizing 1.0 D 0.694 prob.neutral None None None None I
I/R 0.9743 likely_pathogenic 0.9703 pathogenic 0.156 Stabilizing 1.0 D 0.693 prob.neutral None None None None I
I/S 0.9396 likely_pathogenic 0.9162 pathogenic -0.566 Destabilizing 1.0 D 0.633 neutral N 0.467582828 None None I
I/T 0.7985 likely_pathogenic 0.7231 pathogenic -0.547 Destabilizing 1.0 D 0.577 neutral N 0.492445608 None None I
I/V 0.1724 likely_benign 0.1527 benign -0.294 Destabilizing 0.993 D 0.365 neutral N 0.373858455 None None I
I/W 0.9948 likely_pathogenic 0.9936 pathogenic -0.587 Destabilizing 1.0 D 0.741 deleterious None None None None I
I/Y 0.9853 likely_pathogenic 0.9823 pathogenic -0.333 Destabilizing 1.0 D 0.599 neutral 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.