Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1014730664;30665;30666 chr2:178702240;178702239;178702238chr2:179566967;179566966;179566965
N2AB983029713;29714;29715 chr2:178702240;178702239;178702238chr2:179566967;179566966;179566965
N2A890326932;26933;26934 chr2:178702240;178702239;178702238chr2:179566967;179566966;179566965
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: Y
  • RefSeq wild type transcript codon: TAC
  • RefSeq wild type template codon: ATG
  • Domain: Ig-86
  • Domain position: 70
  • Structural Position: 154
  • Q(SASA): 0.0838
  • 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
Y/H None None 1.0 None 0.835 0.579 0.315314060047 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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
Y/A 0.9995 likely_pathogenic 0.9996 pathogenic -2.092 Highly Destabilizing 1.0 D 0.865 deleterious None None None None N
Y/C 0.9951 likely_pathogenic 0.9973 pathogenic -1.317 Destabilizing 1.0 D 0.915 deleterious None None None None N
Y/D 0.9995 likely_pathogenic 0.9997 pathogenic -2.854 Highly Destabilizing 1.0 D 0.901 deleterious None None None None N
Y/E 0.9998 likely_pathogenic 0.9999 pathogenic -2.604 Highly Destabilizing 1.0 D 0.911 deleterious None None None None N
Y/F 0.5522 ambiguous 0.6495 pathogenic -0.617 Destabilizing 0.999 D 0.761 deleterious None None None None N
Y/G 0.9986 likely_pathogenic 0.9989 pathogenic -2.546 Highly Destabilizing 1.0 D 0.902 deleterious None None None None N
Y/H 0.9984 likely_pathogenic 0.9991 pathogenic -1.909 Destabilizing 1.0 D 0.835 deleterious None None None None N
Y/I 0.9874 likely_pathogenic 0.9912 pathogenic -0.594 Destabilizing 1.0 D 0.873 deleterious None None None None N
Y/K 0.9998 likely_pathogenic 0.9999 pathogenic -1.657 Destabilizing 1.0 D 0.907 deleterious None None None None N
Y/L 0.9659 likely_pathogenic 0.971 pathogenic -0.594 Destabilizing 0.999 D 0.825 deleterious None None None None N
Y/M 0.9979 likely_pathogenic 0.9985 pathogenic -0.641 Destabilizing 1.0 D 0.869 deleterious None None None None N
Y/N 0.9981 likely_pathogenic 0.9987 pathogenic -2.603 Highly Destabilizing 1.0 D 0.903 deleterious None None None None N
Y/P 0.9993 likely_pathogenic 0.9995 pathogenic -1.109 Destabilizing 1.0 D 0.921 deleterious None None None None N
Y/Q 0.9999 likely_pathogenic 0.9999 pathogenic -2.149 Highly Destabilizing 1.0 D 0.87 deleterious None None None None N
Y/R 0.9991 likely_pathogenic 0.9993 pathogenic -1.979 Destabilizing 1.0 D 0.906 deleterious None None None None N
Y/S 0.9984 likely_pathogenic 0.9988 pathogenic -2.884 Highly Destabilizing 1.0 D 0.907 deleterious None None None None N
Y/T 0.9993 likely_pathogenic 0.9995 pathogenic -2.484 Highly Destabilizing 1.0 D 0.909 deleterious None None None None N
Y/V 0.9832 likely_pathogenic 0.9872 pathogenic -1.109 Destabilizing 1.0 D 0.839 deleterious None None None None N
Y/W 0.9587 likely_pathogenic 0.9744 pathogenic -0.007 Destabilizing 1.0 D 0.824 deleterious None None 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.