Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2656879927;79928;79929 chr2:178566430;178566429;178566428chr2:179431157;179431156;179431155
N2AB2492775004;75005;75006 chr2:178566430;178566429;178566428chr2:179431157;179431156;179431155
N2A2400072223;72224;72225 chr2:178566430;178566429;178566428chr2:179431157;179431156;179431155
N2B1750352732;52733;52734 chr2:178566430;178566429;178566428chr2:179431157;179431156;179431155
Novex-11762853107;53108;53109 chr2:178566430;178566429;178566428chr2:179431157;179431156;179431155
Novex-21769553308;53309;53310 chr2:178566430;178566429;178566428chr2:179431157;179431156;179431155
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Fn3-81
  • Domain position: 82
  • Structural Position: 113
  • Q(SASA): 0.7663
  • Predicted PPI site: I

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/E rs753685639 0.351 0.067 N 0.359 0.218 0.206339911435 gnomAD-2.1.1 4.02E-06 None None None None I None 0 0 None 0 0 None 0 None 0 8.89E-06 0
K/E rs753685639 0.351 0.067 N 0.359 0.218 0.206339911435 gnomAD-4.0.0 1.59195E-06 None None None None I None 0 0 None 0 0 None 0 0 2.85887E-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
K/A 0.3049 likely_benign 0.3232 benign -0.008 Destabilizing 0.968 D 0.516 neutral None None None None I
K/C 0.672 likely_pathogenic 0.7105 pathogenic -0.274 Destabilizing 1.0 D 0.705 prob.neutral None None None None I
K/D 0.5776 likely_pathogenic 0.5791 pathogenic 0.196 Stabilizing 0.938 D 0.524 neutral None None None None I
K/E 0.2069 likely_benign 0.2034 benign 0.211 Stabilizing 0.067 N 0.359 neutral N 0.489446761 None None I
K/F 0.8401 likely_pathogenic 0.8685 pathogenic -0.224 Destabilizing 1.0 D 0.611 neutral None None None None I
K/G 0.4627 ambiguous 0.4833 ambiguous -0.209 Destabilizing 0.991 D 0.457 neutral None None None None I
K/H 0.326 likely_benign 0.3401 ambiguous -0.461 Destabilizing 0.999 D 0.576 neutral None None None None I
K/I 0.3959 ambiguous 0.4374 ambiguous 0.442 Stabilizing 0.994 D 0.62 neutral N 0.506091082 None None I
K/L 0.4336 ambiguous 0.4652 ambiguous 0.442 Stabilizing 0.991 D 0.469 neutral None None None None I
K/M 0.2866 likely_benign 0.3072 benign 0.21 Stabilizing 1.0 D 0.585 neutral None None None None I
K/N 0.4525 ambiguous 0.4567 ambiguous 0.189 Stabilizing 0.988 D 0.581 neutral N 0.509726033 None None I
K/P 0.691 likely_pathogenic 0.7168 pathogenic 0.32 Stabilizing 0.995 D 0.579 neutral None None None None I
K/Q 0.1475 likely_benign 0.1511 benign 0.041 Stabilizing 0.976 D 0.565 neutral N 0.508379238 None None I
K/R 0.0787 likely_benign 0.081 benign -0.009 Destabilizing 0.958 D 0.433 neutral N 0.473266587 None None I
K/S 0.3849 ambiguous 0.3947 ambiguous -0.33 Destabilizing 0.968 D 0.509 neutral None None None None I
K/T 0.1927 likely_benign 0.1969 benign -0.159 Destabilizing 0.988 D 0.527 neutral N 0.509205958 None None I
K/V 0.342 ambiguous 0.3795 ambiguous 0.32 Stabilizing 0.995 D 0.553 neutral None None None None I
K/W 0.8275 likely_pathogenic 0.8591 pathogenic -0.238 Destabilizing 1.0 D 0.717 prob.delet. None None None None I
K/Y 0.6871 likely_pathogenic 0.7252 pathogenic 0.127 Stabilizing 0.998 D 0.599 neutral None None None None I

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.