Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC2318269769;69770;69771 chr2:178576700;178576699;178576698chr2:179441427;179441426;179441425
N2AB2154164846;64847;64848 chr2:178576700;178576699;178576698chr2:179441427;179441426;179441425
N2A2061462065;62066;62067 chr2:178576700;178576699;178576698chr2:179441427;179441426;179441425
N2B1411742574;42575;42576 chr2:178576700;178576699;178576698chr2:179441427;179441426;179441425
Novex-11424242949;42950;42951 chr2:178576700;178576699;178576698chr2:179441427;179441426;179441425
Novex-21430943150;43151;43152 chr2:178576700;178576699;178576698chr2:179441427;179441426;179441425
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: K
  • RefSeq wild type transcript codon: AAA
  • RefSeq wild type template codon: TTT
  • Domain: Fn3-56
  • Domain position: 44
  • Structural Position: 54
  • Q(SASA): 0.775
  • 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
K/E None None 0.822 N 0.433 0.219 0.270447802918 gnomAD-4.0.0 3.60097E-06 None None None None N None 0 0 None 0 0 None 0 0 3.9375E-06 0 0
K/Q rs1383372565 0.011 0.942 N 0.391 0.239 0.260249123532 gnomAD-2.1.1 3.19E-05 None None None None N None 1.1489E-04 0 None 0 0 None 0 None 0 0 0
K/Q rs1383372565 0.011 0.942 N 0.391 0.239 0.260249123532 gnomAD-3.1.2 6.58E-06 None None None None N None 2.41E-05 0 0 0 0 None 0 0 0 0 0
K/Q rs1383372565 0.011 0.942 N 0.391 0.239 0.260249123532 gnomAD-4.0.0 6.57748E-06 None None None None N None 2.41371E-05 0 None 0 0 None 0 0 0 0 0
K/R rs773432437 0.1 0.014 N 0.315 0.057 0.243972157842 gnomAD-2.1.1 8.04E-06 None None None None N None 0 0 None 0 0 None 0 None 0 8.88E-06 1.65563E-04
K/R rs773432437 0.1 0.014 N 0.315 0.057 0.243972157842 gnomAD-3.1.2 6.58E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
K/R rs773432437 0.1 0.014 N 0.315 0.057 0.243972157842 gnomAD-4.0.0 2.35522E-05 None None None None N None 0 0 None 0 0 None 0 0 2.62794E-05 0 1.12093E-04

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
K/A 0.3516 ambiguous 0.3598 ambiguous 0.018 Stabilizing 0.86 D 0.437 neutral None None None None N
K/C 0.7064 likely_pathogenic 0.7342 pathogenic -0.403 Destabilizing 0.998 D 0.578 neutral None None None None N
K/D 0.4756 ambiguous 0.4878 ambiguous -0.198 Destabilizing 0.978 D 0.409 neutral None None None None N
K/E 0.2889 likely_benign 0.2928 benign -0.216 Destabilizing 0.822 D 0.433 neutral N 0.465588466 None None N
K/F 0.7939 likely_pathogenic 0.7917 pathogenic -0.346 Destabilizing 0.956 D 0.509 neutral None None None None N
K/G 0.3072 likely_benign 0.3024 benign -0.102 Destabilizing 0.926 D 0.401 neutral None None None None N
K/H 0.2841 likely_benign 0.298 benign -0.232 Destabilizing 0.998 D 0.402 neutral None None None None N
K/I 0.5011 ambiguous 0.5026 ambiguous 0.247 Stabilizing 0.89 D 0.523 neutral N 0.475420936 None None N
K/L 0.4167 ambiguous 0.4192 ambiguous 0.247 Stabilizing 0.514 D 0.451 neutral None None None None N
K/M 0.292 likely_benign 0.2967 benign -0.049 Destabilizing 0.559 D 0.435 neutral None None None None N
K/N 0.3004 likely_benign 0.3089 benign 0.072 Stabilizing 0.97 D 0.368 neutral N 0.457851631 None None N
K/P 0.7016 likely_pathogenic 0.6915 pathogenic 0.194 Stabilizing 0.993 D 0.405 neutral None None None None N
K/Q 0.1552 likely_benign 0.1579 benign -0.079 Destabilizing 0.942 D 0.391 neutral N 0.504088139 None None N
K/R 0.0867 likely_benign 0.0889 benign -0.088 Destabilizing 0.014 N 0.315 neutral N 0.446175986 None None N
K/S 0.3593 ambiguous 0.3652 ambiguous -0.31 Destabilizing 0.86 D 0.402 neutral None None None None N
K/T 0.1789 likely_benign 0.1864 benign -0.213 Destabilizing 0.942 D 0.391 neutral N 0.49223635 None None N
K/V 0.4429 ambiguous 0.4511 ambiguous 0.194 Stabilizing 0.754 D 0.401 neutral None None None None N
K/W 0.7833 likely_pathogenic 0.7908 pathogenic -0.443 Destabilizing 0.998 D 0.618 neutral None None None None N
K/Y 0.6122 likely_pathogenic 0.6126 pathogenic -0.085 Destabilizing 0.978 D 0.467 neutral 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.