Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1773253419;53420;53421 chr2:178607494;178607493;178607492chr2:179472221;179472220;179472219
N2AB1609148496;48497;48498 chr2:178607494;178607493;178607492chr2:179472221;179472220;179472219
N2A1516445715;45716;45717 chr2:178607494;178607493;178607492chr2:179472221;179472220;179472219
N2B866726224;26225;26226 chr2:178607494;178607493;178607492chr2:179472221;179472220;179472219
Novex-1879226599;26600;26601 chr2:178607494;178607493;178607492chr2:179472221;179472220;179472219
Novex-2885926800;26801;26802 chr2:178607494;178607493;178607492chr2:179472221;179472220;179472219
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAG
  • RefSeq wild type template codon: TTC
  • Domain: Ig-113
  • Domain position: 56
  • Structural Position: 141
  • Q(SASA): 0.5009
  • 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
K/R rs2055177922 None 0.946 N 0.433 0.261 0.415690173769 gnomAD-3.1.2 6.58E-06 None None None None N None 0 6.56E-05 0 0 0 None 0 0 0 0 0
K/R rs2055177922 None 0.946 N 0.433 0.261 0.415690173769 gnomAD-4.0.0 6.57808E-06 None None None None N None 0 6.5591E-05 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
K/A 0.4079 ambiguous 0.4204 ambiguous -0.094 Destabilizing 0.851 D 0.486 neutral None None None None N
K/C 0.763 likely_pathogenic 0.7306 pathogenic -0.244 Destabilizing 0.999 D 0.651 neutral None None None None N
K/D 0.6028 likely_pathogenic 0.6475 pathogenic 0.227 Stabilizing 0.034 N 0.286 neutral None None None None N
K/E 0.1976 likely_benign 0.2086 benign 0.261 Stabilizing 0.811 D 0.487 neutral N 0.472952448 None None N
K/F 0.8608 likely_pathogenic 0.8486 pathogenic -0.194 Destabilizing 0.988 D 0.639 neutral None None None None N
K/G 0.5129 ambiguous 0.5284 ambiguous -0.339 Destabilizing 0.959 D 0.494 neutral None None None None N
K/H 0.357 ambiguous 0.3448 ambiguous -0.661 Destabilizing 0.999 D 0.542 neutral None None None None N
K/I 0.4807 ambiguous 0.4471 ambiguous 0.483 Stabilizing 0.952 D 0.539 neutral None None None None N
K/L 0.4701 ambiguous 0.4517 ambiguous 0.483 Stabilizing 0.851 D 0.506 neutral None None None None N
K/M 0.3456 ambiguous 0.3226 benign 0.28 Stabilizing 0.996 D 0.537 neutral N 0.487747153 None None N
K/N 0.42 ambiguous 0.4377 ambiguous 0.168 Stabilizing 0.968 D 0.446 neutral N 0.512068196 None None N
K/P 0.5485 ambiguous 0.5728 pathogenic 0.32 Stabilizing 0.996 D 0.542 neutral None None None None N
K/Q 0.1638 likely_benign 0.1532 benign 0.027 Stabilizing 0.984 D 0.501 neutral N 0.51068133 None None N
K/R 0.0974 likely_benign 0.0932 benign -0.109 Destabilizing 0.946 D 0.433 neutral N 0.474915318 None None N
K/S 0.4401 ambiguous 0.4511 ambiguous -0.395 Destabilizing 0.919 D 0.454 neutral None None None None N
K/T 0.1787 likely_benign 0.1769 benign -0.189 Destabilizing 0.896 D 0.483 neutral N 0.461794092 None None N
K/V 0.4192 ambiguous 0.383 ambiguous 0.32 Stabilizing 0.076 N 0.316 neutral None None None None N
K/W 0.8314 likely_pathogenic 0.8044 pathogenic -0.165 Destabilizing 0.999 D 0.669 neutral None None None None N
K/Y 0.7401 likely_pathogenic 0.7268 pathogenic 0.181 Stabilizing 0.996 D 0.605 neutral 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.