Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC33883101872;101873;101874 chr2:178534968;178534967;178534966chr2:179399695;179399694;179399693
N2AB3224296949;96950;96951 chr2:178534968;178534967;178534966chr2:179399695;179399694;179399693
N2A3131594168;94169;94170 chr2:178534968;178534967;178534966chr2:179399695;179399694;179399693
N2B2481874677;74678;74679 chr2:178534968;178534967;178534966chr2:179399695;179399694;179399693
Novex-12494375052;75053;75054 chr2:178534968;178534967;178534966chr2:179399695;179399694;179399693
Novex-22501075253;75254;75255 chr2:178534968;178534967;178534966chr2:179399695;179399694;179399693
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: Kinase-1
  • Domain position: 71
  • Q(SASA): 0.4389
  • 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/G rs1329397426 -0.689 None N None 0.63 0.54495600586 gnomAD-2.1.1 4.03E-06 None None None None N None 6.46E-05 0 None 0 0 None 0 None 0 0 0
E/G rs1329397426 -0.689 None N None 0.63 0.54495600586 gnomAD-4.0.0 1.59281E-06 None None None None N None 5.66187E-05 0 None 0 0 None 0 0 0 0 0
E/K None None None N None 0.457 0.410469974859 gnomAD-4.0.0 1.20032E-06 None None None None N None 0 0 None 0 0 None 0 0 0 6.07533E-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 0.44 ambiguous 0.4231 ambiguous -0.426 Destabilizing None None None None N 0.504467433 None None N
E/C 0.9449 likely_pathogenic 0.9469 pathogenic -0.049 Destabilizing None None None None None None None None N
E/D 0.2153 likely_benign 0.2686 benign -0.377 Destabilizing None None None None N 0.47166436899999997 None None N
E/F 0.943 likely_pathogenic 0.9417 pathogenic -0.153 Destabilizing None None None None None None None None N
E/G 0.475 ambiguous 0.4636 ambiguous -0.656 Destabilizing None None None None N 0.501038788 None None N
E/H 0.787 likely_pathogenic 0.7703 pathogenic None Stabilizing None None None None None None None None N
E/I 0.809 likely_pathogenic 0.7925 pathogenic 0.158 Stabilizing None None None None None None None None N
E/K 0.5721 likely_pathogenic 0.5126 ambiguous 0.384 Stabilizing None None None None N 0.482668009 None None N
E/L 0.8159 likely_pathogenic 0.8043 pathogenic 0.158 Stabilizing None None None None None None None None N
E/M 0.8655 likely_pathogenic 0.8613 pathogenic 0.281 Stabilizing None None None None None None None None N
E/N 0.5635 ambiguous 0.5948 pathogenic -0.103 Destabilizing None None None None None None None None N
E/P 0.904 likely_pathogenic 0.9113 pathogenic -0.016 Destabilizing None None None None None None None None N
E/Q 0.3633 ambiguous 0.3232 benign -0.026 Destabilizing None None None None N 0.462274094 None None N
E/R 0.6515 likely_pathogenic 0.5886 pathogenic 0.572 Stabilizing None None None None None None None None N
E/S 0.4198 ambiguous 0.4115 ambiguous -0.241 Destabilizing None None None None None None None None N
E/T 0.5705 likely_pathogenic 0.557 ambiguous -0.039 Destabilizing None None None None None None None None N
E/V 0.6161 likely_pathogenic 0.5989 pathogenic -0.016 Destabilizing None None None None N 0.497792177 None None N
E/W 0.9798 likely_pathogenic 0.9803 pathogenic 0.055 Stabilizing None None None None None None None None N
E/Y 0.8966 likely_pathogenic 0.8967 pathogenic 0.111 Stabilizing None None None None 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.