Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2647679651;79652;79653 chr2:178566706;178566705;178566704chr2:179431433;179431432;179431431
N2AB2483574728;74729;74730 chr2:178566706;178566705;178566704chr2:179431433;179431432;179431431
N2A2390871947;71948;71949 chr2:178566706;178566705;178566704chr2:179431433;179431432;179431431
N2B1741152456;52457;52458 chr2:178566706;178566705;178566704chr2:179431433;179431432;179431431
Novex-11753652831;52832;52833 chr2:178566706;178566705;178566704chr2:179431433;179431432;179431431
Novex-21760353032;53033;53034 chr2:178566706;178566705;178566704chr2:179431433;179431432;179431431
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACA
  • RefSeq wild type template codon: TGT
  • Domain: Fn3-80
  • Domain position: 91
  • Structural Position: 124
  • Q(SASA): 0.1579
  • 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
T/I rs1457082371 None 0.93 N 0.621 0.326 0.351830644314 gnomAD-4.0.0 1.59211E-06 None None None None N None 0 0 None 0 0 None 0 0 2.85901E-06 0 0
T/P None None 0.006 N 0.422 0.219 0.238096912614 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
T/A 0.1949 likely_benign 0.146 benign -0.783 Destabilizing 0.278 N 0.483 neutral N 0.472224023 None None N
T/C 0.605 likely_pathogenic 0.4857 ambiguous -0.282 Destabilizing 0.995 D 0.619 neutral None None None None N
T/D 0.9139 likely_pathogenic 0.8945 pathogenic -0.629 Destabilizing 0.712 D 0.585 neutral None None None None N
T/E 0.9444 likely_pathogenic 0.9334 pathogenic -0.431 Destabilizing 0.712 D 0.591 neutral None None None None N
T/F 0.9212 likely_pathogenic 0.8766 pathogenic -0.496 Destabilizing 0.982 D 0.711 prob.delet. None None None None N
T/G 0.3508 ambiguous 0.2887 benign -1.195 Destabilizing 0.553 D 0.627 neutral None None None None N
T/H 0.887 likely_pathogenic 0.8535 pathogenic -1.191 Destabilizing 0.995 D 0.73 deleterious None None None None N
T/I 0.8818 likely_pathogenic 0.8347 pathogenic 0.295 Stabilizing 0.93 D 0.621 neutral N 0.470956575 None None N
T/K 0.9556 likely_pathogenic 0.947 pathogenic -0.007 Destabilizing 0.651 D 0.587 neutral N 0.495697102 None None N
T/L 0.5695 likely_pathogenic 0.4845 ambiguous 0.295 Stabilizing 0.712 D 0.613 neutral None None None None N
T/M 0.39 ambiguous 0.3226 benign 0.166 Stabilizing 0.995 D 0.615 neutral None None None None N
T/N 0.5989 likely_pathogenic 0.5438 ambiguous -0.655 Destabilizing 0.712 D 0.592 neutral None None None None N
T/P 0.7722 likely_pathogenic 0.7573 pathogenic -0.032 Destabilizing 0.006 N 0.422 neutral N 0.485354755 None None N
T/Q 0.8935 likely_pathogenic 0.8698 pathogenic -0.414 Destabilizing 0.946 D 0.608 neutral None None None None N
T/R 0.9368 likely_pathogenic 0.9238 pathogenic -0.255 Destabilizing 0.868 D 0.613 neutral N 0.484340797 None None N
T/S 0.1115 likely_benign 0.0997 benign -0.955 Destabilizing 0.01 N 0.321 neutral N 0.370059288 None None N
T/V 0.6384 likely_pathogenic 0.5441 ambiguous -0.032 Destabilizing 0.712 D 0.573 neutral None None None None N
T/W 0.9786 likely_pathogenic 0.9736 pathogenic -0.642 Destabilizing 0.995 D 0.77 deleterious None None None None N
T/Y 0.9357 likely_pathogenic 0.9122 pathogenic -0.213 Destabilizing 0.982 D 0.71 prob.delet. 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.