Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC23057138;7139;7140 chr2:178774351;178774350;178774349chr2:179639078;179639077;179639076
N2AB23057138;7139;7140 chr2:178774351;178774350;178774349chr2:179639078;179639077;179639076
N2A23057138;7139;7140 chr2:178774351;178774350;178774349chr2:179639078;179639077;179639076
N2B22597000;7001;7002 chr2:178774351;178774350;178774349chr2:179639078;179639077;179639076
Novex-122597000;7001;7002 chr2:178774351;178774350;178774349chr2:179639078;179639077;179639076
Novex-222597000;7001;7002 chr2:178774351;178774350;178774349chr2:179639078;179639077;179639076
Novex-323057138;7139;7140 chr2:178774351;178774350;178774349chr2:179639078;179639077;179639076

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAG
  • RefSeq wild type template codon: CTC
  • Domain: Ig-12
  • Domain position: 39
  • Structural Position: 56
  • Q(SASA): 0.2829
  • 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/D rs778211562 None 0.999 D 0.479 0.33 0.337621943819 gnomAD-3.1.2 6.57E-06 None None None None N None 0 0 0 0 0 None 0 0 1.47E-05 0 0
E/D rs778211562 None 0.999 D 0.479 0.33 0.337621943819 gnomAD-4.0.0 6.57108E-06 None None None None N None 0 0 None 0 0 None 0 0 1.46972E-05 0 0
E/G None None 1.0 D 0.701 0.549 0.653189724925 gnomAD-4.0.0 1.59062E-06 None None None None N None 0 0 None 0 0 None 0 0 0 1.43275E-05 0
E/K rs367761468 -0.223 0.999 N 0.606 0.33 None gnomAD-2.1.1 3.98E-05 None None None None N None 0 0 None 0 0 None 0 None 0 8.82E-05 0
E/K rs367761468 -0.223 0.999 N 0.606 0.33 None gnomAD-3.1.2 3.29E-05 None None None None N None 0 0 0 0 0 None 0 0 5.88E-05 0 4.78469E-04
E/K rs367761468 -0.223 0.999 N 0.606 0.33 None gnomAD-4.0.0 7.68294E-05 None None None None N None 0 0 None 0 0 None 0 0 1.03392E-04 0 3.20082E-05
E/Q rs367761468 -0.761 1.0 D 0.605 0.256 None gnomAD-2.1.1 1.2E-05 None None None None N None 1.8457E-04 0 None 0 0 None 0 None 0 0 0
E/Q rs367761468 -0.761 1.0 D 0.605 0.256 None gnomAD-3.1.2 2.63E-05 None None None None N None 7.24E-05 0 0 0 0 None 0 0 1.47E-05 0 0
E/Q rs367761468 -0.761 1.0 D 0.605 0.256 None gnomAD-4.0.0 1.11527E-05 None None None None N None 8.01004E-05 0 None 0 0 None 0 0 1.01697E-05 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
E/A 0.162 likely_benign 0.1678 benign -0.629 Destabilizing 0.999 D 0.664 neutral D 0.604984936 None None N
E/C 0.8667 likely_pathogenic 0.8728 pathogenic -0.516 Destabilizing 1.0 D 0.702 prob.neutral None None None None N
E/D 0.4184 ambiguous 0.4396 ambiguous -0.79 Destabilizing 0.999 D 0.479 neutral D 0.665784389 None None N
E/F 0.8341 likely_pathogenic 0.8327 pathogenic 0.108 Stabilizing 1.0 D 0.721 prob.delet. None None None None N
E/G 0.4051 ambiguous 0.402 ambiguous -0.958 Destabilizing 1.0 D 0.701 prob.neutral D 0.671656969 None None N
E/H 0.736 likely_pathogenic 0.7413 pathogenic 0.247 Stabilizing 1.0 D 0.645 neutral None None None None N
E/I 0.296 likely_benign 0.2928 benign 0.26 Stabilizing 1.0 D 0.751 deleterious None None None None N
E/K 0.2785 likely_benign 0.2701 benign -0.306 Destabilizing 0.999 D 0.606 neutral N 0.508176519 None None N
E/L 0.2997 likely_benign 0.3034 benign 0.26 Stabilizing 1.0 D 0.749 deleterious None None None None N
E/M 0.4081 ambiguous 0.4134 ambiguous 0.36 Stabilizing 1.0 D 0.666 neutral None None None None N
E/N 0.5501 ambiguous 0.5394 ambiguous -0.942 Destabilizing 1.0 D 0.705 prob.neutral None None None None N
E/P 0.3577 ambiguous 0.3713 ambiguous -0.015 Destabilizing 1.0 D 0.716 prob.delet. None None None None N
E/Q 0.1942 likely_benign 0.1977 benign -0.806 Destabilizing 1.0 D 0.605 neutral D 0.553201687 None None N
E/R 0.4967 ambiguous 0.494 ambiguous 0.162 Stabilizing 1.0 D 0.701 prob.neutral None None None None N
E/S 0.3874 ambiguous 0.3877 ambiguous -1.171 Destabilizing 0.999 D 0.637 neutral None None None None N
E/T 0.3473 ambiguous 0.3419 ambiguous -0.889 Destabilizing 1.0 D 0.745 deleterious None None None None N
E/V 0.1868 likely_benign 0.1886 benign -0.015 Destabilizing 1.0 D 0.732 prob.delet. D 0.606858467 None None N
E/W 0.964 likely_pathogenic 0.9653 pathogenic 0.414 Stabilizing 1.0 D 0.705 prob.neutral None None None None N
E/Y 0.8065 likely_pathogenic 0.8048 pathogenic 0.378 Stabilizing 1.0 D 0.699 prob.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.