Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC3112293589;93590;93591 chr2:178548262;178548261;178548260chr2:179412989;179412988;179412987
N2AB2948188666;88667;88668 chr2:178548262;178548261;178548260chr2:179412989;179412988;179412987
N2A2855485885;85886;85887 chr2:178548262;178548261;178548260chr2:179412989;179412988;179412987
N2B2205766394;66395;66396 chr2:178548262;178548261;178548260chr2:179412989;179412988;179412987
Novex-12218266769;66770;66771 chr2:178548262;178548261;178548260chr2:179412989;179412988;179412987
Novex-22224966970;66971;66972 chr2:178548262;178548261;178548260chr2:179412989;179412988;179412987
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: V
  • RefSeq wild type transcript codon: GTT
  • RefSeq wild type template codon: CAA
  • Domain: Fn3-115
  • Domain position: 10
  • Structural Position: 12
  • Q(SASA): 0.4039
  • 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
V/I None None 0.002 N 0.199 0.156 0.0920862733494 gnomAD-4.0.0 1.5911E-06 None None None None N None 0 0 None 0 0 None 0 0 0 0 3.02407E-05

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 0.5498 ambiguous 0.3932 ambiguous -1.617 Destabilizing 0.334 N 0.51 neutral N 0.515614642 None None N
V/C 0.8583 likely_pathogenic 0.7928 pathogenic -1.218 Destabilizing 0.982 D 0.775 deleterious None None None None N
V/D 0.9516 likely_pathogenic 0.8972 pathogenic -1.405 Destabilizing 0.781 D 0.841 deleterious N 0.515764638 None None N
V/E 0.9233 likely_pathogenic 0.8481 pathogenic -1.339 Destabilizing 0.826 D 0.811 deleterious None None None None N
V/F 0.4194 ambiguous 0.3163 benign -1.082 Destabilizing 0.638 D 0.791 deleterious N 0.486754469 None None N
V/G 0.783 likely_pathogenic 0.6447 pathogenic -2.011 Highly Destabilizing 0.781 D 0.806 deleterious N 0.506356889 None None N
V/H 0.9548 likely_pathogenic 0.9065 pathogenic -1.523 Destabilizing 0.982 D 0.841 deleterious None None None None N
V/I 0.0646 likely_benign 0.0639 benign -0.605 Destabilizing 0.002 N 0.199 neutral N 0.465631326 None None N
V/K 0.9399 likely_pathogenic 0.8744 pathogenic -1.47 Destabilizing 0.826 D 0.812 deleterious None None None None N
V/L 0.3121 likely_benign 0.2314 benign -0.605 Destabilizing 0.034 N 0.381 neutral N 0.510518253 None None N
V/M 0.2794 likely_benign 0.2125 benign -0.539 Destabilizing 0.7 D 0.693 prob.neutral None None None None N
V/N 0.8791 likely_pathogenic 0.7722 pathogenic -1.383 Destabilizing 0.935 D 0.851 deleterious None None None None N
V/P 0.8561 likely_pathogenic 0.7258 pathogenic -0.908 Destabilizing 0.935 D 0.836 deleterious None None None None N
V/Q 0.9263 likely_pathogenic 0.8573 pathogenic -1.428 Destabilizing 0.935 D 0.84 deleterious None None None None N
V/R 0.912 likely_pathogenic 0.8179 pathogenic -1.048 Destabilizing 0.826 D 0.849 deleterious None None None None N
V/S 0.78 likely_pathogenic 0.6243 pathogenic -1.973 Destabilizing 0.826 D 0.778 deleterious None None None None N
V/T 0.5541 ambiguous 0.3999 ambiguous -1.773 Destabilizing 0.399 N 0.623 neutral None None None None N
V/W 0.9423 likely_pathogenic 0.9001 pathogenic -1.334 Destabilizing 0.982 D 0.806 deleterious None None None None N
V/Y 0.8623 likely_pathogenic 0.7703 pathogenic -1.024 Destabilizing 0.826 D 0.81 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.