Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1606248409;48410;48411 chr2:178616607;178616606;178616605chr2:179481334;179481333;179481332
N2AB1442143486;43487;43488 chr2:178616607;178616606;178616605chr2:179481334;179481333;179481332
N2A1349440705;40706;40707 chr2:178616607;178616606;178616605chr2:179481334;179481333;179481332
N2B699721214;21215;21216 chr2:178616607;178616606;178616605chr2:179481334;179481333;179481332
Novex-1712221589;21590;21591 chr2:178616607;178616606;178616605chr2:179481334;179481333;179481332
Novex-2718921790;21791;21792 chr2:178616607;178616606;178616605chr2:179481334;179481333;179481332
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: L
  • RefSeq wild type transcript codon: TTG
  • RefSeq wild type template codon: AAC
  • Domain: Fn3-4
  • Domain position: 8
  • Structural Position: 9
  • Q(SASA): 0.192
  • 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
L/F None None 0.217 D 0.453 0.105 0.379366414296 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 1.3125E-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
L/A 0.8856 likely_pathogenic 0.9193 pathogenic -2.263 Highly Destabilizing 0.996 D 0.769 deleterious None None None None N
L/C 0.7828 likely_pathogenic 0.856 pathogenic -1.6 Destabilizing 1.0 D 0.785 deleterious None None None None N
L/D 0.9959 likely_pathogenic 0.997 pathogenic -2.57 Highly Destabilizing 1.0 D 0.882 deleterious None None None None N
L/E 0.9807 likely_pathogenic 0.987 pathogenic -2.329 Highly Destabilizing 1.0 D 0.875 deleterious None None None None N
L/F 0.3006 likely_benign 0.3402 ambiguous -1.254 Destabilizing 0.217 N 0.453 neutral D 0.528851179 None None N
L/G 0.9659 likely_pathogenic 0.9757 pathogenic -2.828 Highly Destabilizing 1.0 D 0.861 deleterious None None None None N
L/H 0.956 likely_pathogenic 0.9711 pathogenic -2.42 Highly Destabilizing 1.0 D 0.869 deleterious None None None None N
L/I 0.1381 likely_benign 0.1463 benign -0.635 Destabilizing 0.992 D 0.725 prob.delet. None None None None N
L/K 0.963 likely_pathogenic 0.9774 pathogenic -1.705 Destabilizing 1.0 D 0.856 deleterious None None None None N
L/M 0.2047 likely_benign 0.2282 benign -0.689 Destabilizing 0.999 D 0.79 deleterious D 0.63432653 None None N
L/N 0.9757 likely_pathogenic 0.982 pathogenic -2.056 Highly Destabilizing 1.0 D 0.887 deleterious None None None None N
L/P 0.8202 likely_pathogenic 0.8736 pathogenic -1.158 Destabilizing 1.0 D 0.889 deleterious None None None None N
L/Q 0.9342 likely_pathogenic 0.957 pathogenic -1.872 Destabilizing 1.0 D 0.879 deleterious None None None None N
L/R 0.9396 likely_pathogenic 0.9608 pathogenic -1.563 Destabilizing 1.0 D 0.87 deleterious None None None None N
L/S 0.9776 likely_pathogenic 0.9844 pathogenic -2.744 Highly Destabilizing 0.999 D 0.852 deleterious D 0.68196584 None None N
L/T 0.888 likely_pathogenic 0.9187 pathogenic -2.35 Highly Destabilizing 1.0 D 0.825 deleterious None None None None N
L/V 0.1896 likely_benign 0.2149 benign -1.158 Destabilizing 0.989 D 0.725 prob.delet. N 0.492123082 None None N
L/W 0.7896 likely_pathogenic 0.8344 pathogenic -1.687 Destabilizing 1.0 D 0.859 deleterious D 0.743489538 None None N
L/Y 0.8586 likely_pathogenic 0.8979 pathogenic -1.349 Destabilizing 0.995 D 0.825 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.