Isoform Positions

Isoform Protein Position Transcript Position Chromosomal Position (HG38) Chromosomal Position (HG19)
IC21086547;6548;6549 chr2:178775542;178775541;178775540chr2:179640269;179640268;179640267
N2AB21086547;6548;6549 chr2:178775542;178775541;178775540chr2:179640269;179640268;179640267
N2A21086547;6548;6549 chr2:178775542;178775541;178775540chr2:179640269;179640268;179640267
N2B20626409;6410;6411 chr2:178775542;178775541;178775540chr2:179640269;179640268;179640267
Novex-120626409;6410;6411 chr2:178775542;178775541;178775540chr2:179640269;179640268;179640267
Novex-220626409;6410;6411 chr2:178775542;178775541;178775540chr2:179640269;179640268;179640267
Novex-321086547;6548;6549 chr2:178775542;178775541;178775540chr2:179640269;179640268;179640267

Information

  • RefSeq wild type amino acid: E
  • RefSeq wild type transcript codon: GAA
  • RefSeq wild type template codon: CTT
  • Domain: Ig-10
  • Domain position: 31
  • Structural Position: 45
  • Q(SASA): 0.4833
  • 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/K rs762999586 0.109 1.0 N 0.635 0.502 None gnomAD-2.1.1 2.84E-05 None None None None N None 0 8.48E-05 None 0 0 None 0 None 0 3.89E-05 0
E/K rs762999586 0.109 1.0 N 0.635 0.502 None gnomAD-3.1.2 2.63E-05 None None None None N None 0 6.55E-05 0 0 0 None 0 0 4.41E-05 0 0
E/K rs762999586 0.109 1.0 N 0.635 0.502 None gnomAD-4.0.0 2.29271E-05 None None None None N None 0 1.0005E-04 None 0 0 None 1.56211E-05 1.64366E-04 2.03396E-05 1.09796E-05 6.40225E-05

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 0.2265 likely_benign 0.2799 benign -0.379 Destabilizing 0.999 D 0.711 prob.delet. N 0.505349498 None None N
E/C 0.9289 likely_pathogenic 0.9488 pathogenic -0.215 Destabilizing 1.0 D 0.795 deleterious None None None None N
E/D 0.243 likely_benign 0.2839 benign -0.405 Destabilizing 0.999 D 0.515 neutral N 0.513657448 None None N
E/F 0.8251 likely_pathogenic 0.8621 pathogenic -0.138 Destabilizing 1.0 D 0.775 deleterious None None None None N
E/G 0.4132 ambiguous 0.5131 ambiguous -0.614 Destabilizing 1.0 D 0.713 prob.delet. D 0.626343205 None None N
E/H 0.6049 likely_pathogenic 0.6665 pathogenic 0.007 Stabilizing 1.0 D 0.709 prob.delet. None None None None N
E/I 0.37 ambiguous 0.4162 ambiguous 0.219 Stabilizing 1.0 D 0.789 deleterious None None None None N
E/K 0.2707 likely_benign 0.317 benign -0.009 Destabilizing 1.0 D 0.635 neutral N 0.512415992 None None N
E/L 0.4947 ambiguous 0.5691 pathogenic 0.219 Stabilizing 1.0 D 0.783 deleterious None None None None N
E/M 0.5671 likely_pathogenic 0.6235 pathogenic 0.244 Stabilizing 1.0 D 0.75 deleterious None None None None N
E/N 0.3931 ambiguous 0.4526 ambiguous -0.26 Destabilizing 1.0 D 0.743 deleterious None None None None N
E/P 0.9526 likely_pathogenic 0.9735 pathogenic 0.041 Stabilizing 1.0 D 0.78 deleterious None None None None N
E/Q 0.1889 likely_benign 0.2181 benign -0.196 Destabilizing 1.0 D 0.647 neutral N 0.500149132 None None N
E/R 0.4017 ambiguous 0.47 ambiguous 0.28 Stabilizing 1.0 D 0.739 prob.delet. None None None None N
E/S 0.2914 likely_benign 0.3478 ambiguous -0.473 Destabilizing 0.999 D 0.688 prob.neutral None None None None N
E/T 0.292 likely_benign 0.3467 ambiguous -0.287 Destabilizing 1.0 D 0.765 deleterious None None None None N
E/V 0.2316 likely_benign 0.2688 benign 0.041 Stabilizing 1.0 D 0.769 deleterious D 0.535056995 None None N
E/W 0.9626 likely_pathogenic 0.9749 pathogenic 0.015 Stabilizing 1.0 D 0.796 deleterious None None None None N
E/Y 0.773 likely_pathogenic 0.8238 pathogenic 0.09 Stabilizing 1.0 D 0.77 deleterious 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.