Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC904827367;27368;27369 chr2:178712883;178712882;178712881chr2:179577610;179577609;179577608
N2AB873126416;26417;26418 chr2:178712883;178712882;178712881chr2:179577610;179577609;179577608
N2A780423635;23636;23637 chr2:178712883;178712882;178712881chr2:179577610;179577609;179577608
N2BNoneNone chr2:Nonechr2:None
Novex-1NoneNone chr2:Nonechr2:None
Novex-2NoneNone chr2:Nonechr2:None
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: F
  • RefSeq wild type transcript codon: TTC
  • RefSeq wild type template codon: AAG
  • Domain: Ig-76
  • Domain position: 30
  • Structural Position: 44
  • Q(SASA): 0.1919
  • 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
F/L None None 0.002 N 0.099 0.189 0.317084106153 gnomAD-4.0.0 1.59175E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43365E-05 0
F/V None None 0.454 N 0.373 0.205 0.433823933641 gnomAD-4.0.0 1.59175E-06 None None None None N None 5.65611E-05 0 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
F/A 0.8278 likely_pathogenic 0.8278 pathogenic -2.569 Highly Destabilizing 0.688 D 0.397 neutral None None None None N
F/C 0.5208 ambiguous 0.4986 ambiguous -1.537 Destabilizing 0.997 D 0.559 neutral N 0.503240834 None None N
F/D 0.976 likely_pathogenic 0.976 pathogenic -1.13 Destabilizing 0.991 D 0.61 neutral None None None None N
F/E 0.9772 likely_pathogenic 0.9777 pathogenic -1.015 Destabilizing 0.991 D 0.617 neutral None None None None N
F/G 0.9395 likely_pathogenic 0.9403 pathogenic -2.939 Highly Destabilizing 0.991 D 0.597 neutral None None None None N
F/H 0.8628 likely_pathogenic 0.8454 pathogenic -1.162 Destabilizing 0.998 D 0.524 neutral None None None None N
F/I 0.3282 likely_benign 0.3164 benign -1.431 Destabilizing 0.051 N 0.128 neutral N 0.478107551 None None N
F/K 0.9685 likely_pathogenic 0.9668 pathogenic -1.462 Destabilizing 0.974 D 0.618 neutral None None None None N
F/L 0.6866 likely_pathogenic 0.6578 pathogenic -1.431 Destabilizing 0.002 N 0.099 neutral N 0.433737912 None None N
F/M 0.5542 ambiguous 0.5503 ambiguous -1.184 Destabilizing 0.949 D 0.498 neutral None None None None N
F/N 0.9186 likely_pathogenic 0.9114 pathogenic -1.465 Destabilizing 0.991 D 0.616 neutral None None None None N
F/P 0.9667 likely_pathogenic 0.9648 pathogenic -1.808 Destabilizing 0.991 D 0.616 neutral None None None None N
F/Q 0.9378 likely_pathogenic 0.9362 pathogenic -1.539 Destabilizing 0.991 D 0.614 neutral None None None None N
F/R 0.9265 likely_pathogenic 0.9234 pathogenic -0.808 Destabilizing 0.974 D 0.613 neutral None None None None N
F/S 0.8047 likely_pathogenic 0.8071 pathogenic -2.379 Highly Destabilizing 0.891 D 0.517 neutral N 0.511932124 None None N
F/T 0.8742 likely_pathogenic 0.871 pathogenic -2.167 Highly Destabilizing 0.915 D 0.489 neutral None None None None N
F/V 0.306 likely_benign 0.2991 benign -1.808 Destabilizing 0.454 N 0.373 neutral N 0.497770748 None None N
F/W 0.6604 likely_pathogenic 0.6573 pathogenic -0.42 Destabilizing 0.998 D 0.489 neutral None None None None N
F/Y 0.26 likely_benign 0.2372 benign -0.707 Destabilizing 0.891 D 0.467 neutral N 0.514068352 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.