Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC477414545;14546;14547 chr2:178738133;178738132;178738131chr2:179602860;179602859;179602858
N2AB445713594;13595;13596 chr2:178738133;178738132;178738131chr2:179602860;179602859;179602858
N2A353010813;10814;10815 chr2:178738133;178738132;178738131chr2:179602860;179602859;179602858
N2B441113456;13457;13458 chr2:178738133;178738132;178738131chr2:179602860;179602859;179602858
Novex-1453613831;13832;13833 chr2:178738133;178738132;178738131chr2:179602860;179602859;179602858
Novex-2460314032;14033;14034 chr2:178738133;178738132;178738131chr2:179602860;179602859;179602858
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: A
  • RefSeq wild type transcript codon: GCT
  • RefSeq wild type template codon: CGA
  • Domain: Ig-30
  • Domain position: 75
  • Structural Position: 158
  • Q(SASA): 0.1032
  • 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
A/P None None 0.996 N 0.857 0.67 0.525561869914 gnomAD-4.0.0 2.05267E-06 None None None None N None 0 0 None 0 0 None 0 0 1.79897E-06 0 1.65662E-05
A/S rs1404878972 -1.669 0.928 N 0.589 0.502 0.396645960531 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 3.27E-05 None 0 8.88E-06 0
A/S rs1404878972 -1.669 0.928 N 0.589 0.502 0.396645960531 gnomAD-4.0.0 5.4738E-06 None None None None N None 2.98739E-05 0 None 0 0 None 0 0 5.39691E-06 1.15937E-05 0
A/T rs1404878972 None 0.928 N 0.652 0.538 0.403896168776 gnomAD-4.0.0 3.42112E-06 None None None None N None 0 0 None 0 0 None 0 0 4.49742E-06 0 0
A/V rs879085292 None 0.085 N 0.407 0.232 None gnomAD-4.0.0 4.10535E-06 None None None None N None 0 0 None 0 0 None 0 0 5.3969E-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
A/C 0.881 likely_pathogenic 0.9357 pathogenic -1.593 Destabilizing 0.999 D 0.823 deleterious None None None None N
A/D 0.9941 likely_pathogenic 0.9962 pathogenic -2.586 Highly Destabilizing 0.996 D 0.848 deleterious N 0.511991537 None None N
A/E 0.9856 likely_pathogenic 0.9911 pathogenic -2.42 Highly Destabilizing 0.992 D 0.833 deleterious None None None None N
A/F 0.862 likely_pathogenic 0.9302 pathogenic -0.846 Destabilizing 0.983 D 0.866 deleterious None None None None N
A/G 0.4119 ambiguous 0.4501 ambiguous -1.734 Destabilizing 0.963 D 0.575 neutral N 0.512147995 None None N
A/H 0.9944 likely_pathogenic 0.9968 pathogenic -1.983 Destabilizing 0.999 D 0.851 deleterious None None None None N
A/I 0.5521 ambiguous 0.7978 pathogenic -0.105 Destabilizing 0.745 D 0.728 prob.delet. None None None None N
A/K 0.997 likely_pathogenic 0.9982 pathogenic -1.372 Destabilizing 0.992 D 0.838 deleterious None None None None N
A/L 0.5635 ambiguous 0.7327 pathogenic -0.105 Destabilizing 0.895 D 0.665 neutral None None None None N
A/M 0.7497 likely_pathogenic 0.8858 pathogenic -0.452 Destabilizing 0.996 D 0.866 deleterious None None None None N
A/N 0.9871 likely_pathogenic 0.9932 pathogenic -1.635 Destabilizing 0.997 D 0.851 deleterious None None None None N
A/P 0.9847 likely_pathogenic 0.9912 pathogenic -0.457 Destabilizing 0.996 D 0.857 deleterious N 0.512159048 None None N
A/Q 0.9835 likely_pathogenic 0.9894 pathogenic -1.516 Destabilizing 0.997 D 0.856 deleterious None None None None N
A/R 0.9894 likely_pathogenic 0.9928 pathogenic -1.359 Destabilizing 0.992 D 0.852 deleterious None None None None N
A/S 0.5181 ambiguous 0.6426 pathogenic -2.051 Highly Destabilizing 0.928 D 0.589 neutral N 0.512057402 None None N
A/T 0.604 likely_pathogenic 0.7948 pathogenic -1.765 Destabilizing 0.928 D 0.652 neutral N 0.512275025 None None N
A/V 0.279 likely_benign 0.5216 ambiguous -0.457 Destabilizing 0.085 N 0.407 neutral N 0.502508322 None None N
A/W 0.9945 likely_pathogenic 0.9974 pathogenic -1.521 Destabilizing 0.999 D 0.841 deleterious None None None None N
A/Y 0.968 likely_pathogenic 0.9819 pathogenic -1.035 Destabilizing 0.992 D 0.876 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.