Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC33474100645;100646;100647 chr2:178536327;178536326;178536325chr2:179401054;179401053;179401052
N2AB3183395722;95723;95724 chr2:178536327;178536326;178536325chr2:179401054;179401053;179401052
N2A3090692941;92942;92943 chr2:178536327;178536326;178536325chr2:179401054;179401053;179401052
N2B2440973450;73451;73452 chr2:178536327;178536326;178536325chr2:179401054;179401053;179401052
Novex-12453473825;73826;73827 chr2:178536327;178536326;178536325chr2:179401054;179401053;179401052
Novex-22460174026;74027;74028 chr2:178536327;178536326;178536325chr2:179401054;179401053;179401052
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: G
  • RefSeq wild type transcript codon: GGG
  • RefSeq wild type template codon: CCC
  • Domain: Fn3-131
  • Domain position: 83
  • Structural Position: 115
  • Q(SASA): 0.2013
  • 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
G/R rs1221430009 None 1.0 D 0.927 0.865 0.719018106523 gnomAD-3.1.2 6.57E-06 None None None None I None 0 6.54E-05 0 0 0 None 0 0 0 0 0
G/R rs1221430009 None 1.0 D 0.927 0.865 0.719018106523 gnomAD-4.0.0 6.57056E-06 None None None None I None 0 6.5445E-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
G/A 0.7104 likely_pathogenic 0.6972 pathogenic -0.596 Destabilizing 1.0 D 0.765 deleterious D 0.542135596 None None I
G/C 0.8514 likely_pathogenic 0.8187 pathogenic -0.95 Destabilizing 1.0 D 0.887 deleterious None None None None I
G/D 0.8962 likely_pathogenic 0.8756 pathogenic -1.05 Destabilizing 1.0 D 0.926 deleterious None None None None I
G/E 0.9061 likely_pathogenic 0.8831 pathogenic -1.212 Destabilizing 1.0 D 0.918 deleterious D 0.560239851 None None I
G/F 0.9711 likely_pathogenic 0.9681 pathogenic -1.281 Destabilizing 1.0 D 0.905 deleterious None None None None I
G/H 0.9767 likely_pathogenic 0.9702 pathogenic -0.8 Destabilizing 1.0 D 0.883 deleterious None None None None I
G/I 0.9575 likely_pathogenic 0.9478 pathogenic -0.667 Destabilizing 1.0 D 0.91 deleterious None None None None I
G/K 0.9643 likely_pathogenic 0.9569 pathogenic -1.032 Destabilizing 1.0 D 0.917 deleterious None None None None I
G/L 0.9662 likely_pathogenic 0.9601 pathogenic -0.667 Destabilizing 1.0 D 0.895 deleterious None None None None I
G/M 0.9745 likely_pathogenic 0.9655 pathogenic -0.494 Destabilizing 1.0 D 0.886 deleterious None None None None I
G/N 0.9262 likely_pathogenic 0.9032 pathogenic -0.662 Destabilizing 1.0 D 0.858 deleterious None None None None I
G/P 0.9974 likely_pathogenic 0.997 pathogenic -0.61 Destabilizing 1.0 D 0.919 deleterious None None None None I
G/Q 0.9321 likely_pathogenic 0.9169 pathogenic -1.027 Destabilizing 1.0 D 0.925 deleterious None None None None I
G/R 0.9175 likely_pathogenic 0.9052 pathogenic -0.495 Destabilizing 1.0 D 0.927 deleterious D 0.560493341 None None I
G/S 0.5668 likely_pathogenic 0.5175 ambiguous -0.803 Destabilizing 1.0 D 0.857 deleterious None None None None I
G/T 0.88 likely_pathogenic 0.8471 pathogenic -0.909 Destabilizing 1.0 D 0.917 deleterious None None None None I
G/V 0.9241 likely_pathogenic 0.9083 pathogenic -0.61 Destabilizing 1.0 D 0.905 deleterious D 0.528652924 None None I
G/W 0.9479 likely_pathogenic 0.9433 pathogenic -1.394 Destabilizing 1.0 D 0.892 deleterious D 0.561507299 None None I
G/Y 0.9619 likely_pathogenic 0.9528 pathogenic -1.072 Destabilizing 1.0 D 0.906 deleterious 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.