Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2684080743;80744;80745 chr2:178565614;178565613;178565612chr2:179430341;179430340;179430339
N2AB2519975820;75821;75822 chr2:178565614;178565613;178565612chr2:179430341;179430340;179430339
N2A2427273039;73040;73041 chr2:178565614;178565613;178565612chr2:179430341;179430340;179430339
N2B1777553548;53549;53550 chr2:178565614;178565613;178565612chr2:179430341;179430340;179430339
Novex-11790053923;53924;53925 chr2:178565614;178565613;178565612chr2:179430341;179430340;179430339
Novex-21796754124;54125;54126 chr2:178565614;178565613;178565612chr2:179430341;179430340;179430339
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Fn3-83
  • Domain position: 61
  • Structural Position: 93
  • Q(SASA): 0.1608
  • 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
V/G None None 0.781 D 0.823 0.554 0.742137632746 gnomAD-4.0.0 1.20032E-06 None None None None N None 6.33473E-05 0 None 0 0 None 0 0 0 0 0
V/I rs373144782 -0.364 0.002 N 0.207 0.059 None gnomAD-2.1.1 4.02E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
V/I rs373144782 -0.364 0.002 N 0.207 0.059 None gnomAD-3.1.2 1.32E-05 None None None None N None 4.83E-05 0 0 0 0 None 0 0 0 0 0
V/I rs373144782 -0.364 0.002 N 0.207 0.059 None gnomAD-4.0.0 3.84438E-06 None None None None N None 5.07734E-05 0 None 0 0 None 0 0 0 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
V/A 0.6092 likely_pathogenic 0.5914 pathogenic -1.684 Destabilizing 0.334 N 0.644 neutral N 0.47553043 None None N
V/C 0.8988 likely_pathogenic 0.8928 pathogenic -1.438 Destabilizing 0.982 D 0.777 deleterious None None None None N
V/D 0.9891 likely_pathogenic 0.9876 pathogenic -1.164 Destabilizing 0.781 D 0.825 deleterious N 0.501534724 None None N
V/E 0.9658 likely_pathogenic 0.9636 pathogenic -1.013 Destabilizing 0.826 D 0.807 deleterious None None None None N
V/F 0.5147 ambiguous 0.4162 ambiguous -1.038 Destabilizing 0.638 D 0.771 deleterious N 0.500467859 None None N
V/G 0.8471 likely_pathogenic 0.8324 pathogenic -2.155 Highly Destabilizing 0.781 D 0.823 deleterious D 0.538503702 None None N
V/H 0.9834 likely_pathogenic 0.9774 pathogenic -1.663 Destabilizing 0.982 D 0.833 deleterious None None None None N
V/I 0.0773 likely_benign 0.0709 benign -0.422 Destabilizing 0.002 N 0.207 neutral N 0.479291269 None None N
V/K 0.9723 likely_pathogenic 0.9687 pathogenic -1.26 Destabilizing 0.826 D 0.811 deleterious None None None None N
V/L 0.4085 ambiguous 0.3577 ambiguous -0.422 Destabilizing 0.034 N 0.585 neutral N 0.463433596 None None N
V/M 0.461 ambiguous 0.3927 ambiguous -0.575 Destabilizing 0.7 D 0.721 prob.delet. None None None None N
V/N 0.9665 likely_pathogenic 0.9607 pathogenic -1.361 Destabilizing 0.935 D 0.861 deleterious None None None None N
V/P 0.9658 likely_pathogenic 0.9661 pathogenic -0.81 Destabilizing 0.935 D 0.81 deleterious None None None None N
V/Q 0.9609 likely_pathogenic 0.9565 pathogenic -1.256 Destabilizing 0.935 D 0.85 deleterious None None None None N
V/R 0.9575 likely_pathogenic 0.9522 pathogenic -1.093 Destabilizing 0.826 D 0.865 deleterious None None None None N
V/S 0.8858 likely_pathogenic 0.871 pathogenic -2.096 Highly Destabilizing 0.826 D 0.805 deleterious None None None None N
V/T 0.7956 likely_pathogenic 0.764 pathogenic -1.782 Destabilizing 0.399 N 0.698 prob.neutral None None None None N
V/W 0.982 likely_pathogenic 0.9719 pathogenic -1.293 Destabilizing 0.982 D 0.819 deleterious None None None None N
V/Y 0.9287 likely_pathogenic 0.9038 pathogenic -0.945 Destabilizing 0.826 D 0.774 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.