Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC15814966;4967;4968 chr2:178777222;178777221;178777220chr2:179641949;179641948;179641947
N2AB15814966;4967;4968 chr2:178777222;178777221;178777220chr2:179641949;179641948;179641947
N2A15814966;4967;4968 chr2:178777222;178777221;178777220chr2:179641949;179641948;179641947
N2B15354828;4829;4830 chr2:178777222;178777221;178777220chr2:179641949;179641948;179641947
Novex-115354828;4829;4830 chr2:178777222;178777221;178777220chr2:179641949;179641948;179641947
Novex-215354828;4829;4830 chr2:178777222;178777221;178777220chr2:179641949;179641948;179641947
Novex-315814966;4967;4968 chr2:178777222;178777221;178777220chr2:179641949;179641948;179641947

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGT
  • RefSeq wild type template codon: CCA
  • Domain: Ig-7
  • Domain position: 26
  • Structural Position: 40
  • Q(SASA): 0.2195
  • 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
G/V None None 1.0 D 0.817 0.802 0.790211260466 gnomAD-4.0.0 1.59064E-06 None None None None I None 0 2.28655E-05 None 0 0 None 0 0 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
G/A 0.9549 likely_pathogenic 0.8914 pathogenic -0.541 Destabilizing 1.0 D 0.729 prob.delet. D 0.635585961 None None I
G/C 0.9951 likely_pathogenic 0.987 pathogenic -0.711 Destabilizing 1.0 D 0.715 prob.delet. D 0.739111993 None None I
G/D 0.9985 likely_pathogenic 0.9967 pathogenic -1.345 Destabilizing 1.0 D 0.861 deleterious D 0.796765084 None None I
G/E 0.999 likely_pathogenic 0.9974 pathogenic -1.512 Destabilizing 1.0 D 0.834 deleterious None None None None I
G/F 0.9996 likely_pathogenic 0.9992 pathogenic -1.321 Destabilizing 1.0 D 0.795 deleterious None None None None I
G/H 0.9998 likely_pathogenic 0.9994 pathogenic -1.005 Destabilizing 1.0 D 0.717 prob.delet. None None None None I
G/I 0.9992 likely_pathogenic 0.9979 pathogenic -0.593 Destabilizing 1.0 D 0.805 deleterious None None None None I
G/K 0.9997 likely_pathogenic 0.9992 pathogenic -1.19 Destabilizing 1.0 D 0.836 deleterious None None None None I
G/L 0.9991 likely_pathogenic 0.9979 pathogenic -0.593 Destabilizing 1.0 D 0.813 deleterious None None None None I
G/M 0.9996 likely_pathogenic 0.9991 pathogenic -0.31 Destabilizing 1.0 D 0.713 prob.delet. None None None None I
G/N 0.9991 likely_pathogenic 0.9979 pathogenic -0.684 Destabilizing 1.0 D 0.839 deleterious None None None None I
G/P 0.9997 likely_pathogenic 0.9995 pathogenic -0.542 Destabilizing 1.0 D 0.823 deleterious None None None None I
G/Q 0.9993 likely_pathogenic 0.9984 pathogenic -1.047 Destabilizing 1.0 D 0.823 deleterious None None None None I
G/R 0.9986 likely_pathogenic 0.9969 pathogenic -0.653 Destabilizing 1.0 D 0.826 deleterious D 0.795928919 None None I
G/S 0.9676 likely_pathogenic 0.9228 pathogenic -0.727 Destabilizing 1.0 D 0.809 deleterious D 0.702947108 None None I
G/T 0.9967 likely_pathogenic 0.9916 pathogenic -0.852 Destabilizing 1.0 D 0.837 deleterious None None None None I
G/V 0.9976 likely_pathogenic 0.9941 pathogenic -0.542 Destabilizing 1.0 D 0.817 deleterious D 0.739259497 None None I
G/W 0.9991 likely_pathogenic 0.9981 pathogenic -1.509 Destabilizing 1.0 D 0.706 prob.neutral None None None None I
G/Y 0.9996 likely_pathogenic 0.999 pathogenic -1.182 Destabilizing 1.0 D 0.785 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.