Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3011590568;90569;90570 chr2:178552557;178552556;178552555chr2:179417284;179417283;179417282
N2AB2847485645;85646;85647 chr2:178552557;178552556;178552555chr2:179417284;179417283;179417282
N2A2754782864;82865;82866 chr2:178552557;178552556;178552555chr2:179417284;179417283;179417282
N2B2105063373;63374;63375 chr2:178552557;178552556;178552555chr2:179417284;179417283;179417282
Novex-12117563748;63749;63750 chr2:178552557;178552556;178552555chr2:179417284;179417283;179417282
Novex-22124263949;63950;63951 chr2:178552557;178552556;178552555chr2:179417284;179417283;179417282
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTC
  • RefSeq wild type template codon: CAG
  • Domain: Fn3-107
  • Domain position: 86
  • Structural Position: 121
  • Q(SASA): 0.1808
  • 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
V/L rs773932096 -0.37 0.435 N 0.441 0.173 0.20549828249 gnomAD-2.1.1 4.02E-06 None None None None I None 0 2.9E-05 None 0 0 None 0 None 0 0 0
V/L rs773932096 -0.37 0.435 N 0.441 0.173 0.20549828249 gnomAD-4.0.0 1.59131E-06 None None None None I None 0 2.28666E-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
V/A 0.1745 likely_benign 0.1322 benign -1.294 Destabilizing 0.002 N 0.26 neutral N 0.429952953 None None I
V/C 0.7036 likely_pathogenic 0.6562 pathogenic -0.723 Destabilizing 0.995 D 0.563 neutral None None None None I
V/D 0.4617 ambiguous 0.3607 ambiguous -1.225 Destabilizing 0.651 D 0.698 prob.delet. N 0.455408758 None None I
V/E 0.3355 likely_benign 0.2623 benign -1.11 Destabilizing 0.712 D 0.624 neutral None None None None I
V/F 0.2463 likely_benign 0.1912 benign -0.738 Destabilizing 0.93 D 0.604 neutral N 0.51405163 None None I
V/G 0.2804 likely_benign 0.2056 benign -1.717 Destabilizing 0.278 N 0.608 neutral N 0.451752377 None None I
V/H 0.6304 likely_pathogenic 0.5438 ambiguous -1.353 Destabilizing 0.995 D 0.792 deleterious None None None None I
V/I 0.0931 likely_benign 0.0816 benign -0.189 Destabilizing 0.435 N 0.51 neutral N 0.495292511 None None I
V/K 0.3953 ambiguous 0.3345 benign -1.026 Destabilizing 0.712 D 0.635 neutral None None None None I
V/L 0.2596 likely_benign 0.2015 benign -0.189 Destabilizing 0.435 N 0.441 neutral N 0.396013738 None None I
V/M 0.1674 likely_benign 0.1223 benign -0.159 Destabilizing 0.982 D 0.468 neutral None None None None I
V/N 0.336 likely_benign 0.2576 benign -1.073 Destabilizing 0.712 D 0.724 deleterious None None None None I
V/P 0.896 likely_pathogenic 0.8528 pathogenic -0.524 Destabilizing 0.946 D 0.679 prob.neutral None None None None I
V/Q 0.3254 likely_benign 0.2778 benign -1.047 Destabilizing 0.946 D 0.681 prob.neutral None None None None I
V/R 0.3741 ambiguous 0.3238 benign -0.771 Destabilizing 0.946 D 0.735 deleterious None None None None I
V/S 0.2202 likely_benign 0.1775 benign -1.654 Destabilizing 0.039 N 0.44 neutral None None None None I
V/T 0.1746 likely_benign 0.1417 benign -1.411 Destabilizing 0.032 N 0.205 neutral None None None None I
V/W 0.9093 likely_pathogenic 0.8545 pathogenic -1.133 Destabilizing 0.995 D 0.816 deleterious None None None None I
V/Y 0.6316 likely_pathogenic 0.5453 ambiguous -0.709 Destabilizing 0.982 D 0.589 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.