Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC1823854937;54938;54939 chr2:178603975;178603974;178603973chr2:179468702;179468701;179468700
N2AB1659750014;50015;50016 chr2:178603975;178603974;178603973chr2:179468702;179468701;179468700
N2A1567047233;47234;47235 chr2:178603975;178603974;178603973chr2:179468702;179468701;179468700
N2B917327742;27743;27744 chr2:178603975;178603974;178603973chr2:179468702;179468701;179468700
Novex-1929828117;28118;28119 chr2:178603975;178603974;178603973chr2:179468702;179468701;179468700
Novex-2936528318;28319;28320 chr2:178603975;178603974;178603973chr2:179468702;179468701;179468700
Novex-3NoneNone chr2:Nonechr2:None

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Fn3-20
  • Domain position: 73
  • Structural Position: 99
  • Q(SASA): 0.5224
  • 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
E/Q None None 0.999 N 0.676 0.416 0.411133732114 gnomAD-4.0.0 1.59345E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43402E-05 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
E/A 0.2835 likely_benign 0.247 benign -0.409 Destabilizing 0.989 D 0.483 neutral N 0.465808923 None None N
E/C 0.9268 likely_pathogenic 0.9153 pathogenic -0.01 Destabilizing 1.0 D 0.695 prob.neutral None None None None N
E/D 0.2893 likely_benign 0.2536 benign -0.377 Destabilizing 0.998 D 0.543 neutral N 0.479561993 None None N
E/F 0.9583 likely_pathogenic 0.9419 pathogenic -0.323 Destabilizing 0.999 D 0.664 neutral None None None None N
E/G 0.452 ambiguous 0.382 ambiguous -0.597 Destabilizing 0.999 D 0.55 neutral N 0.496767648 None None N
E/H 0.748 likely_pathogenic 0.6998 pathogenic -0.101 Destabilizing 1.0 D 0.591 neutral None None None None N
E/I 0.7345 likely_pathogenic 0.6843 pathogenic 0.049 Stabilizing 0.995 D 0.595 neutral None None None None N
E/K 0.4093 ambiguous 0.376 ambiguous 0.384 Stabilizing 0.998 D 0.611 neutral N 0.475256352 None None N
E/L 0.7862 likely_pathogenic 0.7345 pathogenic 0.049 Stabilizing 0.983 D 0.589 neutral None None None None N
E/M 0.8248 likely_pathogenic 0.7829 pathogenic 0.169 Stabilizing 1.0 D 0.597 neutral None None None None N
E/N 0.5731 likely_pathogenic 0.5145 ambiguous 0.043 Stabilizing 1.0 D 0.632 neutral None None None None N
E/P 0.4534 ambiguous 0.4251 ambiguous -0.084 Destabilizing 1.0 D 0.565 neutral None None None None N
E/Q 0.2619 likely_benign 0.2314 benign 0.069 Stabilizing 0.999 D 0.676 prob.neutral N 0.466786882 None None N
E/R 0.5168 ambiguous 0.4895 ambiguous 0.548 Stabilizing 1.0 D 0.627 neutral None None None None N
E/S 0.4104 ambiguous 0.354 ambiguous -0.098 Destabilizing 0.996 D 0.59 neutral None None None None N
E/T 0.492 ambiguous 0.4347 ambiguous 0.058 Stabilizing 0.998 D 0.54 neutral None None None None N
E/V 0.4944 ambiguous 0.4547 ambiguous -0.084 Destabilizing 0.733 D 0.319 neutral N 0.485157853 None None N
E/W 0.9793 likely_pathogenic 0.9712 pathogenic -0.171 Destabilizing 1.0 D 0.691 prob.neutral None None None None N
E/Y 0.9003 likely_pathogenic 0.8711 pathogenic -0.075 Destabilizing 1.0 D 0.621 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.