Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2217266739;66740;66741 chr2:178581754;178581753;178581752chr2:179446481;179446480;179446479
N2AB2053161816;61817;61818 chr2:178581754;178581753;178581752chr2:179446481;179446480;179446479
N2A1960459035;59036;59037 chr2:178581754;178581753;178581752chr2:179446481;179446480;179446479
N2B1310739544;39545;39546 chr2:178581754;178581753;178581752chr2:179446481;179446480;179446479
Novex-11323239919;39920;39921 chr2:178581754;178581753;178581752chr2:179446481;179446480;179446479
Novex-21329940120;40121;40122 chr2:178581754;178581753;178581752chr2:179446481;179446480;179446479
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: S
  • RefSeq wild type transcript codon: TCT
  • RefSeq wild type template codon: AGA
  • Domain: Fn3-49
  • Domain position: 17
  • Structural Position: 19
  • Q(SASA): 0.1636
  • 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/Y rs1455920569 -0.731 0.999 N 0.777 0.417 0.749682748319 gnomAD-2.1.1 4.22E-06 None None None None N None 0 0 None 0 0 None 0 None 0 0 1.7301E-04
S/Y rs1455920569 -0.731 0.999 N 0.777 0.417 0.749682748319 gnomAD-4.0.0 1.60848E-06 None None None None N None 0 0 None 0 0 None 0 2.42601E-04 0 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 0.2899 likely_benign 0.2656 benign -0.358 Destabilizing 0.973 D 0.394 neutral N 0.483381243 None None N
S/C 0.2842 likely_benign 0.2769 benign -0.97 Destabilizing 1.0 D 0.713 prob.delet. N 0.495119623 None None N
S/D 0.9211 likely_pathogenic 0.92 pathogenic -1.921 Destabilizing 0.996 D 0.497 neutral None None None None N
S/E 0.9456 likely_pathogenic 0.9415 pathogenic -1.882 Destabilizing 0.996 D 0.501 neutral None None None None N
S/F 0.7394 likely_pathogenic 0.7016 pathogenic -0.984 Destabilizing 0.999 D 0.785 deleterious N 0.503259925 None None N
S/G 0.3091 likely_benign 0.3067 benign -0.534 Destabilizing 0.996 D 0.413 neutral None None None None N
S/H 0.6529 likely_pathogenic 0.6527 pathogenic -1.098 Destabilizing 1.0 D 0.717 prob.delet. None None None None N
S/I 0.8413 likely_pathogenic 0.7955 pathogenic 0.005 Stabilizing 0.998 D 0.769 deleterious None None None None N
S/K 0.9327 likely_pathogenic 0.9293 pathogenic -0.435 Destabilizing 0.996 D 0.493 neutral None None None None N
S/L 0.4992 ambiguous 0.4522 ambiguous 0.005 Stabilizing 0.992 D 0.635 neutral None None None None N
S/M 0.5561 ambiguous 0.5276 ambiguous 0.109 Stabilizing 1.0 D 0.721 prob.delet. None None None None N
S/N 0.5912 likely_pathogenic 0.5765 pathogenic -0.927 Destabilizing 0.996 D 0.511 neutral None None None None N
S/P 0.9959 likely_pathogenic 0.9961 pathogenic -0.087 Destabilizing 0.999 D 0.731 prob.delet. D 0.544076791 None None N
S/Q 0.8674 likely_pathogenic 0.8656 pathogenic -1.185 Destabilizing 1.0 D 0.631 neutral None None None None N
S/R 0.913 likely_pathogenic 0.9076 pathogenic -0.297 Destabilizing 0.999 D 0.746 deleterious None None None None N
S/T 0.0902 likely_benign 0.0893 benign -0.625 Destabilizing 0.543 D 0.369 neutral N 0.461959089 None None N
S/V 0.7227 likely_pathogenic 0.678 pathogenic -0.087 Destabilizing 0.998 D 0.693 prob.neutral None None None None N
S/W 0.8472 likely_pathogenic 0.8335 pathogenic -1.164 Destabilizing 1.0 D 0.731 prob.delet. None None None None N
S/Y 0.6627 likely_pathogenic 0.638 pathogenic -0.685 Destabilizing 0.999 D 0.777 deleterious N 0.486116721 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.