Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1535246279;46280;46281 chr2:178620467;178620466;178620465chr2:179485194;179485193;179485192
N2AB1371141356;41357;41358 chr2:178620467;178620466;178620465chr2:179485194;179485193;179485192
N2A1278438575;38576;38577 chr2:178620467;178620466;178620465chr2:179485194;179485193;179485192
N2B628719084;19085;19086 chr2:178620467;178620466;178620465chr2:179485194;179485193;179485192
Novex-1641219459;19460;19461 chr2:178620467;178620466;178620465chr2:179485194;179485193;179485192
Novex-2647919660;19661;19662 chr2:178620467;178620466;178620465chr2:179485194;179485193;179485192
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: D
  • RefSeq wild type transcript codon: GAT
  • RefSeq wild type template codon: CTA
  • Domain: Ig-105
  • Domain position: 51
  • Structural Position: 130
  • Q(SASA): 0.4326
  • 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
D/G rs769556979 -0.66 1.0 D 0.659 0.564 0.43046518545 gnomAD-2.1.1 1.62E-05 None None None None N None 0 0 None 0 0 None 0 None 0 3.58E-05 0
D/G rs769556979 -0.66 1.0 D 0.659 0.564 0.43046518545 gnomAD-4.0.0 7.97123E-06 None None None None N None 0 0 None 0 0 None 0 0 1.43201E-05 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
D/A 0.4565 ambiguous 0.4701 ambiguous -0.398 Destabilizing 1.0 D 0.716 prob.delet. D 0.67960176 None None N
D/C 0.8468 likely_pathogenic 0.8857 pathogenic -0.197 Destabilizing 1.0 D 0.712 prob.delet. None None None None N
D/E 0.2791 likely_benign 0.3267 benign -0.423 Destabilizing 1.0 D 0.425 neutral N 0.504891659 None None N
D/F 0.8213 likely_pathogenic 0.8463 pathogenic -0.205 Destabilizing 1.0 D 0.73 prob.delet. None None None None N
D/G 0.4448 ambiguous 0.4349 ambiguous -0.651 Destabilizing 1.0 D 0.659 neutral D 0.561011047 None None N
D/H 0.5633 ambiguous 0.5912 pathogenic -0.24 Destabilizing 1.0 D 0.669 neutral D 0.682715188 None None N
D/I 0.6267 likely_pathogenic 0.685 pathogenic 0.237 Stabilizing 1.0 D 0.743 deleterious None None None None N
D/K 0.6835 likely_pathogenic 0.6977 pathogenic -0.28 Destabilizing 1.0 D 0.698 prob.neutral None None None None N
D/L 0.68 likely_pathogenic 0.6989 pathogenic 0.237 Stabilizing 1.0 D 0.756 deleterious None None None None N
D/M 0.8407 likely_pathogenic 0.8664 pathogenic 0.409 Stabilizing 1.0 D 0.714 prob.delet. None None None None N
D/N 0.217 likely_benign 0.2149 benign -0.455 Destabilizing 1.0 D 0.639 neutral D 0.599212617 None None N
D/P 0.968 likely_pathogenic 0.9672 pathogenic 0.049 Stabilizing 1.0 D 0.698 prob.neutral None None None None N
D/Q 0.5861 likely_pathogenic 0.6143 pathogenic -0.386 Destabilizing 1.0 D 0.691 prob.neutral None None None None N
D/R 0.7184 likely_pathogenic 0.7365 pathogenic -0.018 Destabilizing 1.0 D 0.739 prob.delet. None None None None N
D/S 0.2802 likely_benign 0.2832 benign -0.648 Destabilizing 1.0 D 0.647 neutral None None None None N
D/T 0.5097 ambiguous 0.5422 ambiguous -0.462 Destabilizing 1.0 D 0.707 prob.neutral None None None None N
D/V 0.4601 ambiguous 0.5151 ambiguous 0.049 Stabilizing 1.0 D 0.756 deleterious D 0.642347882 None None N
D/W 0.9454 likely_pathogenic 0.9556 pathogenic -0.081 Destabilizing 1.0 D 0.709 prob.delet. None None None None N
D/Y 0.4856 ambiguous 0.495 ambiguous -0.002 Destabilizing 1.0 D 0.714 prob.delet. D 0.682813392 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.