Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC13214186;4187;4188 chr2:178779231;178779230;178779229chr2:179643958;179643957;179643956
N2AB13214186;4187;4188 chr2:178779231;178779230;178779229chr2:179643958;179643957;179643956
N2A13214186;4187;4188 chr2:178779231;178779230;178779229chr2:179643958;179643957;179643956
N2B12754048;4049;4050 chr2:178779231;178779230;178779229chr2:179643958;179643957;179643956
Novex-112754048;4049;4050 chr2:178779231;178779230;178779229chr2:179643958;179643957;179643956
Novex-212754048;4049;4050 chr2:178779231;178779230;178779229chr2:179643958;179643957;179643956
Novex-313214186;4187;4188 chr2:178779231;178779230;178779229chr2:179643958;179643957;179643956

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAG
  • RefSeq wild type template codon: TTC
  • Domain: Ig-5
  • Domain position: 31
  • Structural Position: 45
  • Q(SASA): 0.7981
  • 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
K/E rs1204400340 0.441 0.999 N 0.662 0.505 0.435152311215 gnomAD-2.1.1 4.01E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.87E-06 0
K/E rs1204400340 0.441 0.999 N 0.662 0.505 0.435152311215 gnomAD-4.0.0 2.40103E-06 None None None None I None 0 0 None 0 0 None 0 0 2.62544E-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
K/A 0.891 likely_pathogenic 0.8684 pathogenic -0.161 Destabilizing 0.999 D 0.689 prob.neutral None None None None I
K/C 0.9688 likely_pathogenic 0.965 pathogenic -0.366 Destabilizing 1.0 D 0.804 deleterious None None None None I
K/D 0.9783 likely_pathogenic 0.972 pathogenic 0.216 Stabilizing 1.0 D 0.774 deleterious None None None None I
K/E 0.7727 likely_pathogenic 0.7322 pathogenic 0.275 Stabilizing 0.999 D 0.662 neutral N 0.473135512 None None I
K/F 0.9886 likely_pathogenic 0.9869 pathogenic -0.176 Destabilizing 1.0 D 0.777 deleterious None None None None I
K/G 0.9496 likely_pathogenic 0.9354 pathogenic -0.417 Destabilizing 1.0 D 0.687 prob.neutral None None None None I
K/H 0.7737 likely_pathogenic 0.7533 pathogenic -0.606 Destabilizing 1.0 D 0.757 deleterious None None None None I
K/I 0.8808 likely_pathogenic 0.8724 pathogenic 0.454 Stabilizing 1.0 D 0.786 deleterious None None None None I
K/L 0.8692 likely_pathogenic 0.8576 pathogenic 0.454 Stabilizing 1.0 D 0.687 prob.neutral None None None None I
K/M 0.8147 likely_pathogenic 0.8036 pathogenic 0.073 Stabilizing 1.0 D 0.751 deleterious D 0.549640346 None None I
K/N 0.9473 likely_pathogenic 0.937 pathogenic 0.046 Stabilizing 1.0 D 0.761 deleterious N 0.511333319 None None I
K/P 0.9904 likely_pathogenic 0.9862 pathogenic 0.278 Stabilizing 1.0 D 0.785 deleterious None None None None I
K/Q 0.5245 ambiguous 0.4861 ambiguous -0.015 Destabilizing 1.0 D 0.741 deleterious N 0.508906 None None I
K/R 0.1488 likely_benign 0.1386 benign -0.105 Destabilizing 0.999 D 0.605 neutral N 0.513531673 None None I
K/S 0.9289 likely_pathogenic 0.9156 pathogenic -0.495 Destabilizing 0.999 D 0.699 prob.neutral None None None None I
K/T 0.7545 likely_pathogenic 0.7372 pathogenic -0.257 Destabilizing 1.0 D 0.744 deleterious N 0.49304959 None None I
K/V 0.7873 likely_pathogenic 0.7761 pathogenic 0.278 Stabilizing 1.0 D 0.752 deleterious None None None None I
K/W 0.9878 likely_pathogenic 0.9848 pathogenic -0.171 Destabilizing 1.0 D 0.805 deleterious None None None None I
K/Y 0.9622 likely_pathogenic 0.9588 pathogenic 0.161 Stabilizing 1.0 D 0.769 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.