Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2325069973;69974;69975 chr2:178576384;178576383;178576382chr2:179441111;179441110;179441109
N2AB2160965050;65051;65052 chr2:178576384;178576383;178576382chr2:179441111;179441110;179441109
N2A2068262269;62270;62271 chr2:178576384;178576383;178576382chr2:179441111;179441110;179441109
N2B1418542778;42779;42780 chr2:178576384;178576383;178576382chr2:179441111;179441110;179441109
Novex-11431043153;43154;43155 chr2:178576384;178576383;178576382chr2:179441111;179441110;179441109
Novex-21437743354;43355;43356 chr2:178576384;178576383;178576382chr2:179441111;179441110;179441109
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: T
  • RefSeq wild type transcript codon: ACT
  • RefSeq wild type template codon: TGA
  • Domain: Fn3-57
  • Domain position: 11
  • Structural Position: 13
  • Q(SASA): 0.4337
  • 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
T/I rs771327436 0.09 0.032 N 0.261 0.141 0.252162846088 gnomAD-2.1.1 4.97E-06 None None None None I None 6.9E-05 0 None 0 0 None 0 None 0 0 0
T/I rs771327436 0.09 0.032 N 0.261 0.141 0.252162846088 gnomAD-3.1.2 2.63E-05 None None None None I None 9.65E-05 0 0 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
T/A 0.1055 likely_benign 0.1113 benign -0.574 Destabilizing 0.489 N 0.477 neutral D 0.522311328 None None I
T/C 0.4434 ambiguous 0.4664 ambiguous -0.239 Destabilizing 0.998 D 0.636 neutral None None None None I
T/D 0.5397 ambiguous 0.5634 ambiguous -0.131 Destabilizing 0.956 D 0.599 neutral None None None None I
T/E 0.3605 ambiguous 0.385 ambiguous -0.192 Destabilizing 0.86 D 0.581 neutral None None None None I
T/F 0.297 likely_benign 0.3189 benign -0.911 Destabilizing 0.956 D 0.695 prob.neutral None None None None I
T/G 0.3415 ambiguous 0.3589 ambiguous -0.753 Destabilizing 0.86 D 0.615 neutral None None None None I
T/H 0.3792 ambiguous 0.4014 ambiguous -1.07 Destabilizing 0.998 D 0.683 prob.neutral None None None None I
T/I 0.1139 likely_benign 0.1282 benign -0.21 Destabilizing 0.032 N 0.261 neutral N 0.476030047 None None I
T/K 0.2442 likely_benign 0.2502 benign -0.573 Destabilizing 0.16 N 0.253 neutral None None None None I
T/L 0.0862 likely_benign 0.0974 benign -0.21 Destabilizing 0.514 D 0.569 neutral None None None None I
T/M 0.0807 likely_benign 0.0859 benign 0.137 Stabilizing 0.988 D 0.629 neutral None None None None I
T/N 0.1852 likely_benign 0.2002 benign -0.334 Destabilizing 0.942 D 0.539 neutral N 0.497617022 None None I
T/P 0.4778 ambiguous 0.4737 ambiguous -0.302 Destabilizing 0.97 D 0.637 neutral N 0.498377491 None None I
T/Q 0.2797 likely_benign 0.2932 benign -0.598 Destabilizing 0.956 D 0.639 neutral None None None None I
T/R 0.2204 likely_benign 0.2322 benign -0.24 Destabilizing 0.915 D 0.59 neutral None None None None I
T/S 0.141 likely_benign 0.1469 benign -0.555 Destabilizing 0.153 N 0.215 neutral N 0.491812275 None None I
T/V 0.0991 likely_benign 0.1084 benign -0.302 Destabilizing 0.514 D 0.514 neutral None None None None I
T/W 0.6863 likely_pathogenic 0.7019 pathogenic -0.869 Destabilizing 0.998 D 0.751 deleterious None None None None I
T/Y 0.3879 ambiguous 0.4132 ambiguous -0.629 Destabilizing 0.978 D 0.695 prob.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.