Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2774483455;83456;83457 chr2:178562902;178562901;178562900chr2:179427629;179427628;179427627
N2AB2610378532;78533;78534 chr2:178562902;178562901;178562900chr2:179427629;179427628;179427627
N2A2517675751;75752;75753 chr2:178562902;178562901;178562900chr2:179427629;179427628;179427627
N2B1867956260;56261;56262 chr2:178562902;178562901;178562900chr2:179427629;179427628;179427627
Novex-11880456635;56636;56637 chr2:178562902;178562901;178562900chr2:179427629;179427628;179427627
Novex-21887156836;56837;56838 chr2:178562902;178562901;178562900chr2:179427629;179427628;179427627
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: Y
  • RefSeq wild type transcript codon: TAT
  • RefSeq wild type template codon: ATA
  • Domain: Ig-141
  • Domain position: 69
  • Structural Position: 154
  • Q(SASA): 0.2138
  • 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 D 0.802 0.844 0.75324538058 gnomAD-4.0.0 1.59196E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85878E-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 0.9993 likely_pathogenic 0.9993 pathogenic -2.551 Highly Destabilizing 1.0 D 0.827 deleterious None None None None N
Y/C 0.9775 likely_pathogenic 0.9777 pathogenic -1.795 Destabilizing 1.0 D 0.84 deleterious D 0.652262572 None None N
Y/D 0.9991 likely_pathogenic 0.9992 pathogenic -3.409 Highly Destabilizing 1.0 D 0.875 deleterious D 0.652262572 None None N
Y/E 0.9996 likely_pathogenic 0.9996 pathogenic -3.163 Highly Destabilizing 1.0 D 0.878 deleterious None None None None N
Y/F 0.2637 likely_benign 0.2724 benign -0.979 Destabilizing 0.999 D 0.723 prob.delet. D 0.601752478 None None N
Y/G 0.9973 likely_pathogenic 0.9974 pathogenic -3.004 Highly Destabilizing 1.0 D 0.881 deleterious None None None None N
Y/H 0.9879 likely_pathogenic 0.9887 pathogenic -2.338 Highly Destabilizing 1.0 D 0.802 deleterious D 0.652060768 None None N
Y/I 0.9766 likely_pathogenic 0.9776 pathogenic -1.041 Destabilizing 1.0 D 0.854 deleterious None None None None N
Y/K 0.9994 likely_pathogenic 0.9994 pathogenic -2.261 Highly Destabilizing 1.0 D 0.875 deleterious None None None None N
Y/L 0.9514 likely_pathogenic 0.9516 pathogenic -1.041 Destabilizing 0.999 D 0.779 deleterious None None None None N
Y/M 0.9909 likely_pathogenic 0.9913 pathogenic -1.044 Destabilizing 1.0 D 0.843 deleterious None None None None N
Y/N 0.9945 likely_pathogenic 0.9949 pathogenic -3.254 Highly Destabilizing 1.0 D 0.859 deleterious D 0.652262572 None None N
Y/P 0.9996 likely_pathogenic 0.9996 pathogenic -1.562 Destabilizing 1.0 D 0.893 deleterious None None None None N
Y/Q 0.9994 likely_pathogenic 0.9995 pathogenic -2.795 Highly Destabilizing 1.0 D 0.83 deleterious None None None None N
Y/R 0.9977 likely_pathogenic 0.9978 pathogenic -2.485 Highly Destabilizing 1.0 D 0.861 deleterious None None None None N
Y/S 0.9977 likely_pathogenic 0.9978 pathogenic -3.492 Highly Destabilizing 1.0 D 0.877 deleterious D 0.652262572 None None N
Y/T 0.9991 likely_pathogenic 0.9992 pathogenic -3.097 Highly Destabilizing 1.0 D 0.879 deleterious None None None None N
Y/V 0.9736 likely_pathogenic 0.9753 pathogenic -1.562 Destabilizing 1.0 D 0.814 deleterious None None None None N
Y/W 0.8173 likely_pathogenic 0.8185 pathogenic -0.385 Destabilizing 1.0 D 0.791 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.